1,913 results match your criteria BMC Medical Genetics [Journal]


Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.

BMC Med Genet 2019 Feb 13;20(1):30. Epub 2019 Feb 13.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

Background: Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chinese family under consanguineous marriage.

Case Presentation: A 28-year-old woman suffered a bilateral profound NSHL. Read More

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http://dx.doi.org/10.1186/s12881-019-0758-2DOI Listing
February 2019

TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study.

BMC Med Genet 2019 Feb 8;20(1):29. Epub 2019 Feb 8.

College of Life Science, North China University of Science and Technology, Tangshan, 063210, China.

Background: Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer.

Methods: This case-control study included 209 small cell lung cancer patients (SCLC), 340 non- small cell lung cancer patients (NSCLC) and 460 health controls. Read More

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http://dx.doi.org/10.1186/s12881-019-0762-6DOI Listing
February 2019
1 Read

ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis.

BMC Med Genet 2019 Feb 1;20(1):28. Epub 2019 Feb 1.

School of Forensic Medicine, China Medical University, No. 77 Puhe Road, Shenbei New District, Shenyang, 110122, China.

Background: Rs189037 (G > A) is a functional single nucleotide polymorphism (SNP) in the Ataxia-telangiectasia mutated (ATM) gene that may be associated with the risk of cancer. We performed a meta-analysis to determine whether rs189037 polymorphism influences the occurrence of cancer and examined the relationship between this SNP and the etiology of cancer.

Methods: Case-control studies were retrieved from literature databases in accordance with established inclusion criteria. Read More

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http://dx.doi.org/10.1186/s12881-019-0760-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359756PMC
February 2019
3 Reads

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.

BMC Med Genet 2019 Jan 31;20(1):27. Epub 2019 Jan 31.

Department of Ophthalmology, University of Pennsylvania, Rm. 313, Stellar Chance Labs, 422 Curie Blvd, Philadelphia, PA, 19104, USA.

Background: Myopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understood. In this study, we performed genetic linkage analyses on Ashkenazi Jewish families with a strong familial history of myopia to elucidate any potential causal genes. Read More

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http://dx.doi.org/10.1186/s12881-019-0752-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357511PMC
January 2019

Association between polymorphisms in the GRIN1 gene 5' regulatory region and schizophrenia in a northern Han Chinese population and haplotype effects on protein expression in vitro.

BMC Med Genet 2019 Jan 31;20(1):26. Epub 2019 Jan 31.

School of Forensic Medicine, China Medical University, No. 77 Puhe Road, Shenyang, 110,122, Shenbei New District, China.

Background: Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. Abnormal glutamate ionotropic N-methyl-D-aspartate receptor (NMDA) type subunit 1 (NR1) may be a potential cause of schizophrenia.

Methods: We conducted a case-control study to investigate the association between the GRIN1 gene, which encodes the NR1 subunit, and the risk of schizophrenia in a northern Chinese Han population using Sanger DNA sequencing. Read More

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http://dx.doi.org/10.1186/s12881-019-0757-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357472PMC
January 2019

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group.

BMC Med Genet 2019 Jan 29;20(1):25. Epub 2019 Jan 29.

Department of Ophthalmology, the Second Affiliated Hospital of Chongqing Medical University, NO.74, Linjiang Road, Yuzhong District, Chongqing, 400010, China.

Background: Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still unclear.

Methods: A total of 2122 Tujia volunteers were recruited and 197 of them were diagnosed with AMD (either dry or wet type). Read More

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http://dx.doi.org/10.1186/s12881-019-0756-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352349PMC
January 2019

Association study between KIR polymorphisms and rheumatoid arthritis disease: an updated meta-analysis.

BMC Med Genet 2019 Jan 29;20(1):24. Epub 2019 Jan 29.

Rheumatology Research Center, Tehran University of Medical Sciences, PO Box: 1411713137, Tehran, Iran.

Background: Currently published studies investigating association between the killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and rheumatoid arthritis (RA) reported inconsistent and contradictory results. Hence, we aim to carry out this comprehensive meta-analysis of all eligible studies meeting the inclusion criteria to achieve precise and comprehensive relationships between genetic variations in KIR gene cluster and risk of RA.

Methods: Databases of Medline/PubMed and Scopus were searched to investigate case-control studies prior to May 2018. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0754-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352331PMC
January 2019
1 Read
2.083 Impact Factor

Glutathione S-transferase pi 1 variant and squamous cell carcinoma susceptibility: a meta-analysis of 52 case-control studies.

BMC Med Genet 2019 Jan 21;20(1):22. Epub 2019 Jan 21.

Department of Urology Surgery, Tianjin First Center Hospital, Tianjin, 300192, China.

Background: There are several meta-analyses on the genetic relationship between the rs1695 polymorphism within the GSTP1 (glutathione S-transferase pi 1) gene and the risk of different SCC (squamous cell carcinoma) diseases, such as ESCC (oesophageal SCC), HNSCC (head and neck SCC), LSCC (lung SCC), and SSCC (skin SCC). Nevertheless, no unified conclusions have been drawn.

Methods: Herein, an updated meta-analysis was performed to evaluate the probable impact of GSTP1 rs1695 on the susceptibility to different SCC diseases under six genetic models (allele, carrier, homozygote, heterozygote, dominant, and recessive). Read More

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http://dx.doi.org/10.1186/s12881-019-0750-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340173PMC
January 2019

A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.

BMC Med Genet 2019 Jan 21;20(1):23. Epub 2019 Jan 21.

Department of Clinical Therapeutics, Alexandra General Hospital, National and Kapodistrian University of Athens, School of Medicine, 80 Vas Sofias Avenue, 11528, Athens, Greece.

Background: Hereditary amyloidosis refers to a wide spectrum of rare diseases with different causative mutations in the genes of various proteins including transthyretin, apolipoprotein AI and AII, gelsolin, lysozyme, cystatin C, fibrinogen Aα-chain, β2-microglobulin, apolipoprotein CII and CIII.

Case Presentation: Among hereditary amyloidosis subtypes, we describe here a specific case of Apolipoprotein AI amyloidosis (AApoAI), where the diagnosis began from an almost asymptomatic hepatomegaly followed by the development of primary hypogonadism. Baseline laboratory tests showed increased liver enzymes, while imaging tests revealed a suspected infiltrative liver disease. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0755-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341640PMC
January 2019
2 Reads

Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa.

BMC Med Genet 2019 Jan 19;20(1):21. Epub 2019 Jan 19.

Myles H. Thaler Center for AIDS and Human Retrovirus Research, Department of Microbiology, Immunology and Cancer Biology, University of Virginia, Charlottesville, VA, USA.

Background: The apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3 (APOBEC3) genes A3D, A3F, A3G and A3H have all been implicated in the restriction of human immunodeficiency virus type 1 (HIV-1) replication. Polymorphisms in these genes are likely to impact viral replication and fitness, contributing to viral diversity. Currently, only a few studies indicate that polymorphisms in the A3 genes may be correlated with infection risk and disease progression. Read More

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http://dx.doi.org/10.1186/s12881-018-0740-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339282PMC
January 2019
2 Reads

Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease.

BMC Med Genet 2019 Jan 18;20(1):18. Epub 2019 Jan 18.

Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, 200062, China.

Background: Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in last decades.

Case Presentation: Here, we report a Chinese young child diagnosed as PFIC with variants in tight junction protein 2 (TJP2). Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0753-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339326PMC
January 2019
6 Reads

The role of MMP-12 gene polymorphism - 82 A-to-G (rs2276109) in immunopathology of COPD in polish patients: a case control study.

BMC Med Genet 2019 Jan 18;20(1):19. Epub 2019 Jan 18.

Second Department of Internal Medicine of Collegium Medicum, Jagiellonian University in Cracow, Skawińska street 8, 31-066, Kraków, Poland.

Background: Major symptoms of chronic obstructive pulmonary disease (COPD) are chronic bronchitis and emphysema leading from lung tissue destruction, that is an effect of an imbalance between metalloproteinases (MMPs) and their tissue inhibitors activity. As potential factor involved in this COPD pathogenesis, MMP-12 is considered. We investigated the role of genetic polymorphism and protein level of MMP-12 in the COPD development among Poles. Read More

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http://dx.doi.org/10.1186/s12881-019-0751-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339316PMC
January 2019
2 Reads

Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population.

BMC Med Genet 2019 Jan 18;20(1):20. Epub 2019 Jan 18.

Second Department of Orthopaedic, Central Hospital of Cangzhou City, Cangzhou, 061001, Hebei, China.

Background: Interleukin-17 (IL-17), a pleiotropic cytokine, plays a significant role in the inflammatory diseases. By a pilot study with small population, IL-17 polymorphisms (IL-17A rs2275913 and IL-17F rs763780) showed a more potential risk factor in knee osteoarthritis (OA) in our recruited subjects. In the current study, the association between IL-17A rs2275913 and IL-17F rs763780and the risk of OA in a Chinese population is studied. Read More

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http://dx.doi.org/10.1186/s12881-018-0736-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339292PMC
January 2019
2 Reads

Association between the insulin-like growth factor 1 gene rs2195239 and rs2162679 polymorphisms and cancer risk: a meta-analysis.

BMC Med Genet 2019 Jan 17;20(1):17. Epub 2019 Jan 17.

Department of Laboratory Medicine, the Second Affiliated Hospital of Chongqing Medical University, No.74 Linjiang Road, Chonqing, 400010, Yuzhong District, China.

Background: Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to determine potential associations between IGF1 rs2195239 and rs2162679 polymorphisms and cancer risk. Read More

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http://dx.doi.org/10.1186/s12881-019-0749-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337782PMC
January 2019
2 Reads

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

BMC Med Genet 2019 Jan 14;20(1):14. Epub 2019 Jan 14.

Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.

Background: Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations. Read More

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http://dx.doi.org/10.1186/s12881-018-0725-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332535PMC
January 2019
1 Read

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

BMC Med Genet 2019 Jan 14;20(1):13. Epub 2019 Jan 14.

Persian BayanGene Research and Training Center, Dr. Faghihi's Medical Genetic Center, Shiraz, Iran.

Background: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. Read More

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http://dx.doi.org/10.1186/s12881-018-0743-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332642PMC
January 2019
2 Reads

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

BMC Med Genet 2019 Jan 14;20(1):15. Epub 2019 Jan 14.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

Background: Autosomal recessive nail dysplasia is characterized by thick and hard nails with a very slow growth on the hands and feet. Mutations in FZD6 gene were found to be associated with autosomal recessive nail dysplasia in 2011. Presently, only seven mutations have been reported in FZD6 gene; five mutations are clustered in the C-terminus, one is at the seventh transmembrane domain, and another is at the very beginning of third extracellular loop. Read More

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http://dx.doi.org/10.1186/s12881-019-0746-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332616PMC
January 2019
3 Reads

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

BMC Med Genet 2019 Jan 14;20(1):16. Epub 2019 Jan 14.

Department of Biomedical Science, University of Sassari, Sassari, Italy.

Background: KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 cases of KBG syndrome reported.

Case Presentation: Here, we describe two sisters of a non-consanguineous family, both presenting generalized epilepsy with febrile seizures (GEFS+), and one with a more complex phenotype associated with mild intellectual disability, skeletal and dental anomalies. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0745-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332862PMC
January 2019
6 Reads

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

BMC Med Genet 2019 Jan 11;20(1):12. Epub 2019 Jan 11.

Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia.

Background: Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.

Case Presentation: We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the CREBBP gene for a sequence variant designated c. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0747-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330443PMC
January 2019
3 Reads

Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review.

BMC Med Genet 2019 Jan 11;20(1). Epub 2019 Jan 11.

Department of Endocrinology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Beijing, China.

Background: Acanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic disorders. Fibroblast growth factor receptor 3 (FGFR3) mutations have been identified as one of the genetic causes of inherited AN.

Case Presentation: A 17-year-old Chinese female had presented generalized acanthosis nigricans since she was 4 years old. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0748-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329052PMC
January 2019
7 Reads

Modeling gene-environment interactions in longitudinal family studies: a comparison of methods and their application to the association between the IGF pathway and childhood obesity.

BMC Med Genet 2019 Jan 11;20(1). Epub 2019 Jan 11.

School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Cres, Ottawa, Ontario, K1G 5Z3, Canada.

Background: The interactive effect of the IGF pathway genes with the environment may contribute to childhood obesity. Such gene-environment interactions can take on complex forms. Detecting those relationships using longitudinal family studies requires simultaneously accounting for correlations within individuals and families. Read More

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http://dx.doi.org/10.1186/s12881-018-0739-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329142PMC
January 2019
2 Reads

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

BMC Med Genet 2019 Jan 11;20(1):11. Epub 2019 Jan 11.

Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, 100853, China.

Background: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which is involved in mitochondrial transport of metabolites. This study aimed to identify the pathogenic gene variations in three Chinese families associated with predicted MTS with or without X-linked agammaglobulinaemia. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0741-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330410PMC
January 2019
6 Reads
2.083 Impact Factor

Polymorphisms in IL36G gene are associated with plaque psoriasis.

BMC Med Genet 2019 Jan 11;20(1):10. Epub 2019 Jan 11.

Department of Dermatology and Venerology, University of Tartu, 31 Raja St, 50417, Tartu, Estonia.

Background: Plaque psoriasis is a non-contagious skin disease in which characteristic red and flaky lesions result from a dysregulation involving both innate and adaptive immune mechanisms. Several cytokines have been implicated in these processes and lately interleukin (IL)-36 family members have become more recognised among them. Thus far, genetic studies have only investigated IL36RN gene of this family in relation to pustular psoriasis. Read More

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http://dx.doi.org/10.1186/s12881-018-0742-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330488PMC
January 2019
3 Reads

Polymorphism in the EREG gene confers susceptibility to tuberculosis.

BMC Med Genet 2019 Jan 11;20(1). Epub 2019 Jan 11.

Shanghai Key Laboratory of Mycobacterium Tuberculosis, Shanghai Pulmonary Hospital Affiliated to Tongji University School of Medicine, Shanghai, People's Republic of China.

Background: Host genetic factors affect the immune response to Mycobacterium tuberculosis (Mtb) infection as well as the progression of the disease. Epiregulin (EREG) belongs to the epidermal growth factor (EGF) family, which binds to the epidermal growth factor receptor (EGFR) to regulate the immune response of the host during infections. Our study aimed to compare EREG levels in tuberculosis (TB) patients and healthy controls and assess whether polymorphisms in EREG increase the risk of TB. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0729-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329172PMC
January 2019
6 Reads

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.

BMC Med Genet 2019 Jan 8;20(1). Epub 2019 Jan 8.

Unidad de Investigación, Hospital Nuestra Señora de Candelaria, Carretera del Rosario 145, 38010, Santa Cruz de Tenerife, Spain.

Background: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and progressive chronic renal failure. This rare disease is caused by mutations in CLDN16 that encodes claudin-16, a tight-junction protein involved in paracellular reabsorption of magnesium and calcium in the renal tubule. Most of these variants are located in exons and have been classified as missense mutations. Read More

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http://dx.doi.org/10.1186/s12881-018-0713-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325764PMC
January 2019
2 Reads

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.

BMC Med Genet 2019 Jan 7;20(1). Epub 2019 Jan 7.

Department of Ophthalmology in XinHua hospital, Shanghai Jiao Tong University, Kongjiang road 1665, Yangpu District, Shanghai, China.

Background: Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0720-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323710PMC
January 2019
4 Reads

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

BMC Med Genet 2019 Jan 6;20(1). Epub 2019 Jan 6.

Children and Women's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China.

Background: Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome sequencing as a second tier screening method to assist clinical diagnosis of the newborn.

Methods: A novel PCR-exome amplification and re-sequencing (PEARS) assay was designed and used to detect mutations in 122 genes associated with 101 IEM. Read More

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http://dx.doi.org/10.1186/s12881-018-0731-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322297PMC
January 2019
3 Reads

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome.

BMC Med Genet 2019 Jan 7;20(1). Epub 2019 Jan 7.

Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

Background: Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Read More

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http://dx.doi.org/10.1186/s12881-018-0744-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322229PMC
January 2019
2 Reads
2.083 Impact Factor

Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study.

BMC Med Genet 2019 Jan 5;20(1). Epub 2019 Jan 5.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, Al-Neelain University, P.O. Box: 12702, Khartoum, Sudan.

Background: Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan.

Methods: A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 2017. Read More

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http://dx.doi.org/10.1186/s12881-018-0737-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321713PMC
January 2019
3 Reads
2.083 Impact Factor

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.

BMC Med Genet 2019 Jan 3;20(1). Epub 2019 Jan 3.

Department of Biology and Medical Genetics, Medical University of Gdansk, 1 Debinki Street, 80-211, Gdansk, Poland.

Background: Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants. Genetic changes predicted to affect NIPBL gene splicing represent 15% of all NIPBL genetic abnormalities. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0738-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318863PMC
January 2019
2 Reads

A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.

BMC Med Genet 2018 Dec 31;19(Suppl 1):214. Epub 2018 Dec 31.

Yunnan Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, 650500, People's Republic of China.

Background: Trichothiodystrophy nonphotosensitive 1 (TTDN1) is a disease with mental retardation, brittle hair. Some cases of the diseases are caused by mutations of the MPLKIP gene.

Methods: We carefully identified the clinic characteristics, the sulfur level and pattern of the hair shafts of a female patient of with the symptom of hypergonadotropic hypogonadism, and of her parents and brother whose are healthy. Read More

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http://dx.doi.org/10.1186/s12881-018-0723-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311919PMC
December 2018
1 Read

Parkinson's disease and Alzheimer's disease: a Mendelian randomization study.

BMC Med Genet 2018 Dec 31;19(Suppl 1):215. Epub 2018 Dec 31.

School of Life Science and Technology, Harbin Institute of Technology, Harbin, China.

Background: Alzheimer's disease (AD) and Parkinson's disease (PD) are the top two common neurodegenerative diseases in elderly. Recent studies found the α-synuclein have a key role in AD. Although many clinical and pathological features between AD and PD are shared, the genetic association between them remains unclear, especially whether α-synuclein in PD genetically alters AD risk. Read More

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http://dx.doi.org/10.1186/s12881-018-0721-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311900PMC
December 2018
1 Read

Integrated molecular characterization of adult soft tissue sarcoma for therapeutic targets.

BMC Med Genet 2018 Dec 31;19(Suppl 1):216. Epub 2018 Dec 31.

Department of Cancer Biomedical Science, NCC-GCSP, National Cancer Center, Goyang, Gyeonggi, 10408, South Korea.

Background: Several studies have investigated the molecular drivers and therapeutic targets in adult soft tissue sarcomas. However, such studies are limited by the genomic heterogeneity and rarity of sarcomas, particularly in those with complex and unbalanced karyotypes. Additional biomarkers are needed across sarcoma types to improve therapeutic strategies. Read More

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http://dx.doi.org/10.1186/s12881-018-0722-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311917PMC
December 2018
7 Reads

Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.

BMC Med Genet 2018 Dec 27;19(1):219. Epub 2018 Dec 27.

Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430030, China.

Background: Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphingolipids, the substrates of the enzyme, in lysosomes in organs and tissues. Mutations in the α-Gal A gene (GLA, Xq22) have been proven to be responsible for Fabry disease. Read More

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http://dx.doi.org/10.1186/s12881-018-0734-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307325PMC
December 2018
7 Reads

Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection.

BMC Med Genet 2018 Dec 22;19(1):218. Epub 2018 Dec 22.

Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, No 1#, Minde Road, Nanchang, China.

Background: Thoracic aortic aneurysm and dissection (TAAD) is a common condition associated with high mortality. It is predominantly inherited in an autosomal dominant manner with reduced penetrance and variable expression. The genetic basis of the majority of TAAD cases remains unknown. Read More

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http://dx.doi.org/10.1186/s12881-018-0735-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303953PMC
December 2018
7 Reads
2.083 Impact Factor

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study.

BMC Med Genet 2018 Dec 20;19(1):217. Epub 2018 Dec 20.

Department of Orthopaedics and Trauma Surgery, Campus Bio-Medico University of Rome, Rome, Italy.

Background: The incidence of RC tears increases with aging, affecting approximately 30 to 50% of individuals older than 50 years, and more than 50% of individuals older than 80 years. Intrinsic factors (age or gender), extrinsic factors (sports activity or occupation), and biological factors were identified in the onset and progression of RC tears. The attention in the study of aetiology of RC tendinopathy has shifted to the identification of gene variants. Read More

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http://dx.doi.org/10.1186/s12881-018-0727-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302427PMC
December 2018
9 Reads

Association of glucocorticoid receptor gene polymorphism and occupational stress with hypertension in desert petroleum workers in Xinjiang, China.

BMC Med Genet 2018 Dec 13;19(1):213. Epub 2018 Dec 13.

The First Affiliated Hospital, Xinjiang Medical University, Urumqi, 830011, China.

Background: The aim of this study was to investigate the occupational stress and hypertension in desert petroleum workers in Xinjiang, and to analyze the association of occupational stress and glucocorticoid receptor (GR) gene polymorphism with the presence of hypertension.

Methods: Using cluster sampling, 1280 desert petroleum workers of 3 petroleum fields in Xinjiang Karamay were randomly selected as the target group for this study. According to the inclusion criteria, a total of 1080 workers were included as the baseline for this study. Read More

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http://dx.doi.org/10.1186/s12881-018-0688-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292126PMC
December 2018
1 Read

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.

BMC Med Genet 2018 Dec 12;19(1):210. Epub 2018 Dec 12.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan.

Background: Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe a female OTCD case caused by an exonic duplication of the OTC gene (exons 1-6). Read More

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http://dx.doi.org/10.1186/s12881-018-0733-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292170PMC
December 2018
1 Read

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

BMC Med Genet 2018 Dec 12;19(1):211. Epub 2018 Dec 12.

Department of Endocrinology and Diabetes, The First Affiliated Hospital of Xiamen University, 55# Zhenhai Road, Xiamen, 361003, China.

Background: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture. Read More

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http://dx.doi.org/10.1186/s12881-018-0732-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292130PMC
December 2018
2 Reads

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.

BMC Med Genet 2018 Dec 12;19(1):212. Epub 2018 Dec 12.

Department of Pediatrics, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Ruijin 2nd Road 197, Shanghai, 200025, China.

Background: Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known laboratory assays do not meet the precision requirements for clinical diagnosis. Read More

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http://dx.doi.org/10.1186/s12881-018-0730-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292044PMC
December 2018
2 Reads

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

BMC Med Genet 2018 Dec 7;19(1):209. Epub 2018 Dec 7.

Department of Prosthodontics, Changsha Stomatological Hospital, Changsha, 410004, Hunan, China.

Background: Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c. Read More

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http://dx.doi.org/10.1186/s12881-018-0726-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286515PMC
December 2018
2 Reads

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.

BMC Med Genet 2018 Dec 7;19(1):208. Epub 2018 Dec 7.

Department of Cardiovascular Genetics and The Laboratory of Forensic Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Background: Thoracic aortic aneurysm (TAA) and/or thoracic aortic aneurysm and dissection (TAAD) is characterized by a considerable risk of morbidity and mortality of affected individuals. It is inherited in an autosomal dominant pattern and the 20% of patients with non-syndromic TAA have a positive family history. To date, the genetic basis of Cypriot patients with TAA has not been investigated. Read More

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http://dx.doi.org/10.1186/s12881-018-0728-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286578PMC
December 2018
4 Reads

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study.

BMC Med Genet 2018 Dec 4;19(1):207. Epub 2018 Dec 4.

Section of Metabolic Genetics, The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen, Denmark.

Background: The genetics of fetal insulin release and/or action have been suggested to affect fetal growth, adult insulin resistance and adult body composition. The genetic correlation between body composition at birth versus glycaemic regulation and body composition in adulthood have, however, not been well studied. We therefore aimed to investigate these genetic correlations in a family-based cohort. Read More

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http://dx.doi.org/10.1186/s12881-018-0718-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278142PMC
December 2018
2 Reads

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.

BMC Med Genet 2018 Dec 3;19(1):206. Epub 2018 Dec 3.

Liver Disease Diagnosis and Treatment Center of PLA, Bethune International Peace Hospital, Shijiazhuang, 050082, China.

Background: Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple organs. Two genes have been shown to be mutated in patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D, formerly MLL2). Although the congenital clinical characteristic is helpful in diagnosis of the KS, there are no reports of specific findings in fetuses that might suggest the syndrome prenatally. Read More

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http://dx.doi.org/10.1186/s12881-018-0724-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276138PMC
December 2018
2 Reads
2.083 Impact Factor

Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia.

BMC Med Genet 2018 Nov 29;19(1):205. Epub 2018 Nov 29.

Faculty of Medicine, Memorial University of Newfoundland, M5M107 Medical Education Building, 300 Prince Philip Drive, St. John's, NL, A1B 3V6, Canada.

Background: The objective of this study was to examine individual and community factors that influence high-density lipoprotein cholesterol (HDL-C) dyslipidemia in Newfoundland and Labrador (NL), a genetically isolated population in Canada with a high prevalence of HDL-C dyslipidemia.

Methods: First, a group of single nucleotide polymorphisms from 10 metabolic trait candidate genes was tested using a multivariate logistic regression model. The significant SNPs were entered into the second phase, where a mixed logistic model incorporated the community disease risk factors together with the individual factors as the fixed part of the model and the geographic region as a random effect. Read More

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http://dx.doi.org/10.1186/s12881-018-0719-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267790PMC
November 2018
2 Reads

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease.

BMC Med Genet 2018 Nov 26;19(1):204. Epub 2018 Nov 26.

Department of Ophthalmology, Chinese PLA General Hospital, Beijing, 100853, China.

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease.

Methods: Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. Read More

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http://dx.doi.org/10.1186/s12881-018-0716-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258150PMC
November 2018
10 Reads

Relationship between transforming growth factor-β1 and type 2 diabetic nephropathy risk in Chinese population.

BMC Med Genet 2018 Nov 20;19(1):201. Epub 2018 Nov 20.

Department of Nephrology, the Second Affiliated Hospital of Shantou University Medical College, No 69 Dongsha Road, Shantou, 515041, China.

Background: Diabetes mellitus (DM) is divided into four different etiological categories: type 1 DM (T1DM), type 2 DM (T2DM), other specific types, and gestational DM. One severe complication of T2DM is type 2 diabetic nephropathy (T2DN). The possible association of serum transforming growth factor-β1 (TGF-β1) levels and the TGF-β1 T869C gene polymorphism with patient susceptibility to T2DN in Chinese population is unclear at present. Read More

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http://dx.doi.org/10.1186/s12881-018-0717-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247505PMC
November 2018
8 Reads

Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.

BMC Med Genet 2018 Nov 20;19(1):203. Epub 2018 Nov 20.

Department of Biochemistry, Imam Abdulrahman Bin Faisal University, Dammam, 31441, Saudi Arabia.

Background: Obesity is one of the main causes of morbidity and mortality worldwide. More than 120 genes have been shown to be associated with obesity related phenotypes. The aim of this study was to determine the effect of selected genetic polymorphisms in Uncoupling protein 1 (UCP1) and Niemann-Pick C1 (NPC1) genes in an obese population in Saudi Arabia. Read More

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http://dx.doi.org/10.1186/s12881-018-0715-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247512PMC
November 2018
19 Reads

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.

BMC Med Genet 2018 Nov 20;19(1):202. Epub 2018 Nov 20.

Department of Neonatal Intensive Care Unit, Dongguan Children's Hospital, Dongguan, 523325, Guangdong, China.

Background: Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important causes of mitochondrial disorders. VARS2 is one of the genes encoding aminoacyl-tRNA synthetases. Recently, an increasing number of pathogenic variants of VARS2 have been reported. Read More

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http://dx.doi.org/10.1186/s12881-018-0689-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247698PMC
November 2018
8 Reads

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.

BMC Med Genet 2018 Nov 20;19(1):200. Epub 2018 Nov 20.

Division of Molecular Medicine, St. John's Research Institute, Bangalore, India.

Background: Steroid resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disease with significant phenotypic variability. More than 53 podocyte-expressed genes are implicated in SRNS which complicates the routine use of genetic screening in the clinic. Next generation sequencing technology (NGS) allows rapid screening of multiple genes in large number of patients in a cost-effective manner. Read More

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http://dx.doi.org/10.1186/s12881-018-0714-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245897PMC
November 2018
2 Reads