2,200 results match your criteria BMC medical genetics[Journal]


Genetic variation in toll like receptors 2, 7, 9 and interleukin-6 is associated with cytomegalovirus infection in late pregnancy.

BMC Med Genet 2020 May 25;21(1):113. Epub 2020 May 25.

Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Background: Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV status is inconclusive. This study investigated the possible association of single nucleotide polymorphisms in toll-like receptor (TLR) and cytokine genes with maternal plasma CMV DNA status in black Zimbabweans. Read More

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http://dx.doi.org/10.1186/s12881-020-01044-8DOI Listing

A novel ultra-sensitive method for the detection of FGFR3 mutations in urine of bladder cancer patients - Design of the Urodiag® PCR kit for surveillance of patients with non-muscle-invasive bladder cancer (NMIBC).

BMC Med Genet 2020 May 24;21(1):112. Epub 2020 May 24.

OncoDiag, 9 rue de Pacy, 27930, Miserey, France.

Background: We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk NMIBC. Previously, the detection of four FGFR3 mutations (G372C, R248C, S249C and Y375C) required amplification steps and PCR products were analyzed by capillary electrophoresis (Allele Specific-PCR, AS-PCR), which was expensive and time-consuming. Here, we present the development a novel ultra-sensitive multiplex PCR assay as called "Mutated Allele Specific Oligonucleotide-PCR (MASO-PCR)", generating a cost-effective, simple, fast and clinically applicable assay for the detection of FGFR3 mutations in voided urine. Read More

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http://dx.doi.org/10.1186/s12881-020-01050-wDOI Listing

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.

BMC Med Genet 2020 May 24;21(1):111. Epub 2020 May 24.

The Auvergne-Rhône-Alpes Regional Branch of the French National Blood System EFS/GIMAP-EA 3064, 42100, Saint Etienne, France.

Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs).

Methods: A diagnosis of MPS II or Hunter syndrome was performed based on the following approach after a clinical and paraclinical suspicion. Two biochemical and molecular tests were carried out separately and according to the availability of the biological material. Read More

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http://dx.doi.org/10.1186/s12881-020-01051-9DOI Listing

Association of preeclampsia with infant APOL1 genotype in African Americans.

BMC Med Genet 2020 May 20;21(1):110. Epub 2020 May 20.

Departments of Inflammation and Immunity and Nephrology, Cleveland Clinic, Case Western Reserve University School of Medicine, Cleveland, USA.

Background: Black women in the United States and Africa are at an increased risk for preeclampsia. Allelic variants in the gene for apolipoprotein LI, APOL1, are found only in populations of African ancestry, and have been shown to contribute significant risk for kidney disease. Recent studies suggest these APOL1 variants also may contribute risk for preeclampsia. Read More

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http://dx.doi.org/10.1186/s12881-020-01048-4DOI Listing

LARS2-Perrault syndrome: a new case report and literature review.

BMC Med Genet 2020 May 18;21(1):109. Epub 2020 May 18.

Department of Genetic Medicine, University Hospitals of Geneva Rue, Gabrielle-Perret-Gentil 4, 1211, Genève 14, Switzerland.

Background: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and LARS2. To date, 19 variants have been reported in 18 individuals with LARS2-Perrault syndrome. Read More

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http://dx.doi.org/10.1186/s12881-020-01028-8DOI Listing

Associations of mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.

BMC Med Genet 2020 May 15;21(1):105. Epub 2020 May 15.

Clinical Medical College, Yangzhou University, Yangzhou, 225001, Jiangsu, China.

Background: Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has not been fully understood. The study was to evaluate the associations of mtDNA mutations with maternally inherited essential hypertensive subjects in China. Read More

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http://dx.doi.org/10.1186/s12881-020-01045-7DOI Listing

Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer's disease endophenotypes.

BMC Med Genet 2020 May 15;21(1):106. Epub 2020 May 15.

Department of Biostatistics, University of Kentucky, Lexington, KY, 40536-0082, USA.

Background: Current sequencing technologies have provided for a more comprehensive genome-wide assessment and have increased genotyping accuracy of rare variants. Scan statistic approaches have previously been adapted to genetic sequencing data. Unlike currently-employed association tests, scan-statistic-based approaches can both localize clusters of disease-related variants and, subsequently, examine the phenotype association within the resulting cluster. Read More

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http://dx.doi.org/10.1186/s12881-020-01046-6DOI Listing

HTRA1 rs11200638 variant and AMD risk from a comprehensive analysis about 15,316 subjects.

BMC Med Genet 2020 May 15;21(1):107. Epub 2020 May 15.

Department of Critical Medicine, Second People's Hospital of Mudanjiang, Mudanjiang, 157000, Heilongjiang Province, China.

Background: The high-temperature requirement factor A1 (HTRA1) gene located at 10q26 locus has been associated with age-related macular degenerative (AMD), with the significantly related polymorphism being (rs11200638, -625G/A), however, above association is not consistent. We investigated a comprehensive analysis to evaluate the correlations between rs11200638 polymorphism and AMD susceptibility thoroughly addressing this issue.

Methods: An identification was covered from the PubMed and Wanfang databases until 27th Jan, 2020. Read More

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http://dx.doi.org/10.1186/s12881-020-01047-5DOI Listing

Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis.

BMC Med Genet 2020 May 15;21(1):108. Epub 2020 May 15.

BioMolecular Analytics, 10 Independence Blvd, Suite 140, Warren, NJ, 07059, USA.

Background: Beta (β)-thalassemia is one of the most common inherited disorders worldwide, with high prevalence in the Mediterranean, the Middle East and South Asia. Over the past 40 years, awareness and prevention campaigns in many countries have greatly reduced the incidence of affected child births. In contrast, much remains to be done in South-Asia. Read More

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http://dx.doi.org/10.1186/s12881-020-01017-xDOI Listing

TNF-α - 308 G/A and IFN-γ + 874 A/T gene polymorphisms in Saudi patients with cutaneous leishmaniasis.

BMC Med Genet 2020 May 13;21(1):104. Epub 2020 May 13.

Department of Dermatology, College of Medicine, Qassim University, Buraidah, Saudi Arabia.

Background: Cutaneous leishmaniasis (CL) is well linked with immunogenetic factors. This study was undertaken to test the association of TNF-α - 308 and IFN-γ + 874 gene polymorphisms with the susceptibility of Leishmania (L) species among CL patients in central region of Saudi Arabia.

Methods: This is a case-control study involved 169 Saudi subjects with different L. Read More

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http://dx.doi.org/10.1186/s12881-020-01043-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218653PMC
May 2020
2.083 Impact Factor

Association of rs610604 in TNFAIP3 and rs17728338 in TNIP1 gene polymorphisms with psoriasis susceptibility: a meta-analysis of case-control studies.

BMC Med Genet 2020 May 12;21(1):103. Epub 2020 May 12.

Department of Dermatology, Shanghai Xuhui Central Hospital, Shanghai, 200031, China.

Background: To date, the fundamental pathophysiology underlying the occurrence and progression of psoriasis are still unanswered questions. Genome-wide association surveys have revealed that TNFAIP3 and TNIP1 were key biomarkers for psoriasis. Here, we intended to conduct a survey on the association between TNFAIP3 and TNIP1 gene polymorphisms and psoriasis risk. Read More

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http://dx.doi.org/10.1186/s12881-020-01041-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216328PMC

Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.

BMC Med Genet 2020 May 12;21(1):102. Epub 2020 May 12.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany.

Background: Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a dermatologic and rheumatologic spectrum that are variable in manifestation und therapeutic response. Genetic risk factors have long been assumed in both diseases, but no single reliable factor has been identified yet. Therefore, we aimed to clinically characterize a patient group with syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) (n = 47) and chronic recurrent multifocal osteomyelitis (CRMO)/ chronic non-bacterial osteomyelitis (CNO) (n = 9) and analyze a CRMO candidate gene. Read More

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http://dx.doi.org/10.1186/s12881-020-01037-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216525PMC

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.

BMC Med Genet 2020 May 11;21(1):99. Epub 2020 May 11.

Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, 20892, USA.

Background: To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated ID.

Methods: Considering the large number of ID-associated genes, we applied trio-based whole-exome sequencing (trio-WES) and in silico analysis for genetic diagnosis of 294 children with ID. Read More

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http://dx.doi.org/10.1186/s12881-020-01042-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216709PMC

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

BMC Med Genet 2020 May 11;21(1):100. Epub 2020 May 11.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.

Background: Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure, seizures, behavioral changes and premature death. CLN5 was initially named Finnish variant late infantile NCL, it is now known to be present in other ethnic populations and with variable age of onset. Few CLN5 patients had been reported in Chinese population. Read More

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http://dx.doi.org/10.1186/s12881-020-01039-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216669PMC
May 2020
2.083 Impact Factor

Recurrent secondary genomic alterations in desmoplastic small round cell tumors.

BMC Med Genet 2020 May 11;21(1):101. Epub 2020 May 11.

Foundation Medicine, Inc, Cambridge, MA, USA.

Background: Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive, translocation-associated soft-tissue sarcoma that primarily affects children, adolescents, and young adults, with a striking male predominance. It is characterized by t(11;22) generating a novel EWSR1-WT1 fusion gene. Secondary genomic alterations are rarely described. Read More

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http://dx.doi.org/10.1186/s12881-020-01034-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216377PMC

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.

BMC Med Genet 2020 May 11;21(1):98. Epub 2020 May 11.

Hangzhou Genuine Clinical Laboratory Co. Ltd, 859 Shixiang West Road, Hangzhou, 310007, Zhejiang Province, China.

Background: Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA, electron transfer flavoprotein β-subunit, ETFB and electron transfer flavoprotein dehydrogenase, ETFDH. Currently, few studies have reported genetic profiling of neonatal-onset GA II. This study aimed to identify the genetic mutations in a Chinese family with GA II. Read More

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http://dx.doi.org/10.1186/s12881-020-00995-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212588PMC

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.

BMC Med Genet 2020 May 7;21(1):96. Epub 2020 May 7.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.

Background: Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia, psychomotor delay, and cerebellar ataxia. Cerebral MRI shows mid- and hindbrain anomalies including the molar tooth sign. Read More

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http://dx.doi.org/10.1186/s12881-020-01024-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204034PMC

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients.

BMC Med Genet 2020 May 7;21(1):95. Epub 2020 May 7.

Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, No.1665 Kongjiang road, Shanghai, 200092, China.

Background: Conotruncal heart defects (CTDs) are a group of congenital heart malformations that cause anomalies of cardiac outflow tracts. In the past few decades, many genes related to CTDs have been reported. Serum response factor (SRF) is a ubiquitous nuclear protein that acts as transcription factor, and SRF was found to be a critical factor in heart development and to be strongly expressed in the myocardium of the developing mouse and chicken hearts. Read More

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http://dx.doi.org/10.1186/s12881-020-01032-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203814PMC

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

BMC Med Genet 2020 May 7;21(1):97. Epub 2020 May 7.

Institute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan.

Background: Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms. In the affected individuals, the enamel is usually thin, soft, rough, brittle, pitted, chipped, and abraded, having reduced functional ability and aesthetics. Read More

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http://dx.doi.org/10.1186/s12881-020-01038-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206816PMC

Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia.

BMC Med Genet 2020 May 6;21(1):93. Epub 2020 May 6.

Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China.

Background: Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The PRIMPOL variant has only been identified in Chinese patients with high myopia. Read More

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http://dx.doi.org/10.1186/s12881-020-01035-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203802PMC

Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.

BMC Med Genet 2020 May 6;21(1):91. Epub 2020 May 6.

Department of Internal Medicine (Endocrinology and Metabolism), Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.

Background: Renal hypouricemia (RHUC) is a hereditary disorder where mutations in SLC22A12 gene and SLC2A9 gene cause RHUC type 1 (RHUC1) and RHUC type 2 (RHUC2), respectively. These genes regulate renal tubular reabsorption of urates while there exist other genes counterbalancing the net excretion of urates including ABCG2 and SLC17A1. Urate metabolism is tightly interconnected with glucose metabolism, and SLC2A9 gene may be involved in insulin secretion from pancreatic β-cells. Read More

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http://dx.doi.org/10.1186/s12881-020-01031-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201978PMC

Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer.

BMC Med Genet 2020 May 6;21(1):92. Epub 2020 May 6.

Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Background: Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existence of germline variants that influence tumor etiology and/or progression and are filtered out using traditional pipelines for somatic mutation calling. Read More

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http://dx.doi.org/10.1186/s12881-020-01033-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201963PMC

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.

BMC Med Genet 2020 May 6;21(1):94. Epub 2020 May 6.

Internal Medicine Department, Hospital General Universitario Gregorio Marañón, Calle Dr. Esquerdo 46, 28007, Madrid, Spain.

Background: Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.

Case Presentation: We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c. Read More

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http://dx.doi.org/10.1186/s12881-020-01027-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203852PMC

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

BMC Med Genet 2020 May 5;21(1):90. Epub 2020 May 5.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.

Background: ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course.

Case Presentation: Two subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once for sagittal synostosis. Read More

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http://dx.doi.org/10.1186/s12881-020-01015-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201657PMC

Association between IL28B Polymorphisms and Outcomes of Hepatitis B Virus Infection: A meta-analysis.

BMC Med Genet 2020 May 1;21(1):88. Epub 2020 May 1.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Regenerative Medicine Clinic, Tianjin, 300020, China.

Background: Interleukin (IL) 28B polymorphisms encoding pro-inflammatory and anti-inflammatory cytokines trigger diverse clinical outcome of hepatitis virus infection. However, there is controversy concerning the association of IL28B polymorphisms with the outcome of hepatitis B virus (HBV) infection, with several studies obtaining inconsistent results. We performed a meta-analysis to evaluate the role of 3 single nucleotide polymorphisms (SNPs) rs12979860, rs12980275 and rs8099917 in the progression of HBV infection, overall and by ethnicity. Read More

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http://dx.doi.org/10.1186/s12881-020-01026-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195703PMC

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

BMC Med Genet 2020 May 1;21(1):87. Epub 2020 May 1.

Department of Medicine, Solna, Karolinska Institutet, Solnavägen 30, 171 76 Solna, Stockholm, Sweden.

Background: Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD. Read More

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http://dx.doi.org/10.1186/s12881-020-01020-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193346PMC
May 2020
2.083 Impact Factor

The true panel of cystic fibrosis mutations in the Sicilian population.

BMC Med Genet 2020 May 1;21(1):89. Epub 2020 May 1.

Unità di Medicina della Riproduzione - Centro HERA, via Barriera del Bosco n. 51/53, 95030, Catania, Sant'Agata Li Battiati, Italy.

Background: The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.

Methods: A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient's blood.

Results: One patient out of 16 was a carrier of a CFTR mutation. Read More

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http://dx.doi.org/10.1186/s12881-020-0958-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195759PMC

Correlation of gene polymorphisms of vascular endothelial growth factor with grade and prognosis of lung cancer.

BMC Med Genet 2020 Apr 30;21(1):86. Epub 2020 Apr 30.

Department of Thoracic Surgery, the Fourth Hospital of Hebei Medical University, 12 Jiankang Road, Shijiazhuang, 050000, China.

Background: Vascular endothelial growth factor (VEGF) gene is highly polymorphic, and single nucleotide polymorphisms (SNP) of VEGF gene are associate with cancer prognosis. This study aimed to analyze the correlation of VEGF gene polymorphisms with grade and prognosis of lung cancer.

Methods: A total of 458 Chinese patients with primary lung cancer were enrolled from September 2008 to October 2013. Read More

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http://dx.doi.org/10.1186/s12881-020-01030-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193393PMC

No association between the Ser9Gly polymorphism of the dopamine receptor D3 gene and schizophrenia: a meta-analysis of family-based association studies.

BMC Med Genet 2020 Apr 21;21(1):85. Epub 2020 Apr 21.

School of Forensic Medicine, China Medical University, No. 77, Puhe Road, Shenyang North New Area, Shenyang, Liaoning Province, 110122, People's Republic of China.

Background: Previous studies found that Ser9Gly (rs6280) might be involved in the occurrence of schizophrenia. However, no consist conclusion has yet been achieved. Compared to the case-control study, the family-based study took into account stratification bias. Read More

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http://dx.doi.org/10.1186/s12881-020-01018-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171831PMC

A case report of NPHP1 deletion in Chinese twins with nephronophthisis.

BMC Med Genet 2020 Apr 19;21(1):84. Epub 2020 Apr 19.

Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, 400037, China.

Background: Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life. As an inherited disorder with highly genetic heterogeneity and clinical presentations, NPHP still poses a challenging task for nephrologists without special training to make a well-judged decision on its precise diagnosis, let alone its mechanism and optimal therapy. Read More

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http://dx.doi.org/10.1186/s12881-020-01025-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168837PMC

Correlation between gene polymorphism in angiotensin II type 1 receptor and type 2 diabetes mellitus complicated by hypertension in a population of Inner Mongolia.

BMC Med Genet 2020 Apr 19;21(1):83. Epub 2020 Apr 19.

Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical University, Hohhot, 010050, Inner Mongolia, Autonomous Region, People's Republic of China.

Background: The role of angiotensin II type 1 receptor (AT1R) as a key player in type 2 diabetes mellitus (T2DM) complicated with hypertension remains controversial. The present case-control study systematically investigated the association between gene the correct variation type in the angiotensin II type 1 receptor (AT1R) gene and type 2 diabetes mellitus complicated with hypertension in the Han population from the Inner Mongolia region, China.

Method: Here, state which variants were analysis, including age, occupation, triglyceride, systolic, diastolic, sex, culture, marital status, smoking, alcohol, BMI (body mass index), SBP (systolic blood pressure), DBP (diastolic blood pressure), TG (triglyceride), TC (total cholesterol), HDL-C (high-density lipoprotein cholesterol), LDL-C (low-density lipoprotein cholesterol), FPG (fasting plasma glucose). Read More

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http://dx.doi.org/10.1186/s12881-020-01021-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168833PMC

Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair.

BMC Med Genet 2020 Apr 17;21(1):82. Epub 2020 Apr 17.

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

Background: Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achilles tendinopathy, chronic degenerative tendon changes at the elbow, and other tendinopathies. The influence of Single Nucleotide Polymorphisms of COL5A1 was previously analyzed in rotator cuff disease with confounding results. Read More

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http://dx.doi.org/10.1186/s12881-020-01022-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7165385PMC

Association study between common variations in some candidate genes and prostate adenocarcinoma predisposition through multi-stage approach in Iranian population.

BMC Med Genet 2020 Apr 15;21(1):81. Epub 2020 Apr 15.

Department of Pathology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Background: Prostate cancer is one of the five common cancers and has the second incidence rate and the third mortality rate in Iranian population. The purpose of this study was to evaluate the association of rs16901979, rs4242382 and rs1447295 on 8q24 locus, rs2735839 (KLK3 gene) and rs721048 (EHBP1 gene) with prostate adenocarcinoma through multi-stage approach to identify the polymorphisms associated with prostate cancer and use them as screening factors. Screening tests can identify people who may have a chance of developing the disease before detection and any symptoms. Read More

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http://dx.doi.org/10.1186/s12881-020-01014-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161142PMC

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.

BMC Med Genet 2020 Apr 15;21(1):79. Epub 2020 Apr 15.

The Swedish Institute for Disability Research, Örebro University, Örebro, Sweden.

Background: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness. Read More

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http://dx.doi.org/10.1186/s12881-020-01023-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160968PMC

Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.

BMC Med Genet 2020 Apr 15;21(1):80. Epub 2020 Apr 15.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Background: Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, whereas the full clinical spectrum of PS in infancy and beyond remains elusive.

Case Presentation: We present the case of a 12-month-old boy with PS, manifesting as the bilateral microcoria and congenital nephrotic syndrome. Read More

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http://dx.doi.org/10.1186/s12881-020-01019-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160948PMC

Identification and analysis of KLF13 variants in patients with congenital heart disease.

BMC Med Genet 2020 Apr 15;21(1):78. Epub 2020 Apr 15.

Department of Pediatric Cardiology, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

Background: The protein Kruppel-like factor 13 (KLF13) is a member of the KLF family and has been identified as a cardiac transcription factor that is involved in heart development. However, the relationship between KLF13 variants and CHDs in humans remains largely unknown. The present study aimed to screen the KLF13 variants in CHD patients and genetically analyze the functions of these variants. Read More

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http://dx.doi.org/10.1186/s12881-020-01009-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160950PMC

Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.

BMC Med Genet 2020 Apr 15;21(1):77. Epub 2020 Apr 15.

Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41, Majlesi St., Valieasr Ave, Tehran, Iran.

Background: Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generation Sequencing (NGS) technology is the most effective method for identification of pathogenic variants with the ability to overcome some limitations which Sanger sequencing may encountered. Read More

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http://dx.doi.org/10.1186/s12881-020-01016-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158096PMC

Ovarian metastases from ileum cancer in a patient with germline EPCAM gene deletion successfully treated with surgical resection and CAPOX chemotherapy: a case report.

BMC Med Genet 2020 04 9;21(1):76. Epub 2020 Apr 9.

Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.

Background: Despite recent findings that epithelial cell adhesion molecule (EPCAM) deletions can cause Lynch syndrome (LS), its clinical characteristics are still unknown. We present the first case of ileum cancer in a patient with germline EPCAM gene deletion, which was discovered during ovarian tumor surgery.

Case Presentation: A 59-year-old woman presented with a history of colon cancer occurring at 38 and 55 years old. Read More

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http://dx.doi.org/10.1186/s12881-020-01013-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144057PMC

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.

BMC Med Genet 2020 04 8;21(1):74. Epub 2020 Apr 8.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.

Background: PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation and elevated liver transaminases. Read More

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http://dx.doi.org/10.1186/s12881-020-01010-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140494PMC

Hepcidin gene polymorphisms and iron overload in β-thalassemia major patients refractory to iron chelating therapy.

BMC Med Genet 2020 04 8;21(1):75. Epub 2020 Apr 8.

Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Hemmat Expressway, IBTO Building, Tehran, 1449613111, Iran.

Background: β Thalassemia is one of the most common groups of hereditary haemoglobinopathies. Affected people with thalassemia major are dependent on regular blood transfusion which on the long term leads to iron overload. Hepcidin is a peptide hormone and an important regulator of iron homeostasis, especially in thalassemia. Read More

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http://dx.doi.org/10.1186/s12881-020-01011-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140315PMC

Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.

BMC Med Genet 2020 04 6;21(1):72. Epub 2020 Apr 6.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.

Background: Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA or PCCB. The present study aimed to identify the genetic cause of three Chinese patients with PA.

Case Presentation: Three Chinese PA patients were diagnosed by using gas chromatography-mass spectrometry(GC-MS), tandem mass spectrometry (MS/MS) and molecular diagnostic methods. Read More

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http://dx.doi.org/10.1186/s12881-020-01008-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137301PMC
April 2020
2.083 Impact Factor

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.

BMC Med Genet 2020 04 6;21(1):73. Epub 2020 Apr 6.

Medical Genetics Laboratory, Petrovsky National Research Centre of Surgery, Abricosovsky lane, 2, Moscow, 119991, Russian Federation.

Background: Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000-3000) autosomal-dominant disorder with high risk of venous thromboembolism. Mutations in the serpin family C member 1 gene (SERPINC1) can lead to Quantitative (type I) and Qualitative (type II) types of antithrombin deficiency. We describe a new genetic variant in the SERPINC1 gene and our approach to variant interpretation. Read More

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http://dx.doi.org/10.1186/s12881-020-01001-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137186PMC

Association between FCGR2A rs1801274 and MUC5B rs35705950 variations and pneumonia susceptibility.

BMC Med Genet 2020 04 6;21(1):71. Epub 2020 Apr 6.

Endoscopic Skull Base Surgery Center, Tianjin Huanhu Hospital, No 6, JiZhao Road, Jinnan District, Tianjin, 300350, P.R. China.

Background: Herein, we collected currently published data to comprehensively evaluate the impact of the FCGR2A (Fc fragment of IgG receptor IIa) rs1801274 and MUC5B (mucin 5B, oligomeric mucus/gel-forming) rs35705950 variations on susceptibility to pneumonia diseases.

Methods: We retrieved case-control studies from three online databases and applied the statistical approach of meta-analysis for a series of pooling analyses.

Results: A total of fourteen case-control studies were included for FCGR2A rs1801274; while thirty-one case-control studies were included for MUC5B rs35705950. Read More

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http://dx.doi.org/10.1186/s12881-020-01005-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137230PMC

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.

BMC Med Genet 2020 04 3;21(1):70. Epub 2020 Apr 3.

Department of Diabetes & Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland.

Background: Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus.

Case Presentation: The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3. Read More

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http://dx.doi.org/10.1186/s12881-020-01012-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118888PMC

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.

BMC Med Genet 2020 04 3;21(1):69. Epub 2020 Apr 3.

Department of Intensive Care Unit, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Children's Hospital, Zhengzhou, China.

Background: The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in literature thus far.

Case Presentation: We present two brothers with intractable seizures and syndromic intellectual disability with symptoms consisting of delayed development, intellectual disability, and speech and language delay. The mother was a symptomatic carrier with milder clinical phenotype. Read More

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http://dx.doi.org/10.1186/s12881-020-01004-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7119275PMC

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

BMC Med Genet 2020 03 31;21(1):68. Epub 2020 Mar 31.

Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.

Background: The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural hearing loss in both males and females and gonadal dysfunction in females. Read More

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http://dx.doi.org/10.1186/s12881-020-01002-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7110654PMC

Association between the IL-10 and IL-6 polymorphisms and brucellosis susceptibility: a meta-analysis.

BMC Med Genet 2020 03 30;21(1):63. Epub 2020 Mar 30.

Department of Clinical Laboratory, First Affiliated Hospital of Soochow University, 188 Shizi Road, Suzhou, 215006, People's Republic of China.

Background: Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 (- 1082 G/A, - 819 C/T, - 592C/A) and IL-6 -174 G/C polymorphisms have a great relationship with IL-10 and IL-6 production, which brings about Brucellosis pathogenesis and development. So far, the results of published literatures were controversial. Read More

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http://dx.doi.org/10.1186/s12881-020-01006-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104517PMC

Obesity-related loci in TMEM18, CDKAL1 and FAIM2 are associated with obesity and type 2 diabetes in Chinese Han patients.

BMC Med Genet 2020 03 30;21(1):65. Epub 2020 Mar 30.

Department of Endocrinology, The Second Hospital of Jilin University, No. 218 Ziqiang Street, Changchun, 130000, China.

Background: Several obesity susceptibility loci in genes, including GNPDA2, SH2B1, TMEM18, MTCH2, CDKAL1, FAIM2, and MC4R, have been identified by genome-wide association studies. The purpose of this study was to investigate whether these loci are associated with the concurrence of obesity and type 2 diabetes in Chinese Han patients.

Methods: Using the SNaPshot technique, we genotyped seven single nucleotide polymorphisms (SNPs) in 439 Chinese patients living in Northeast China who presented at The Second Hospital of Jilin University. Read More

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http://dx.doi.org/10.1186/s12881-020-00999-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106578PMC

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.

BMC Med Genet 2020 03 30;21(1):64. Epub 2020 Mar 30.

Severn Pathology, Paediatric and Perinatal Pathology, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.

Background: The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been associated with an antenatally severe under-mineralising skeletal dysplasia accompanied by postnatal biochemical abnormalities. This is the first post-mortem report in a patient with TRPV6 skeletal dysplasia. Read More

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http://dx.doi.org/10.1186/s12881-020-01007-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106792PMC

Identification of novel biomarkers in ischemic stroke: a genome-wide integrated analysis.

BMC Med Genet 2020 03 30;21(1):66. Epub 2020 Mar 30.

Department of Neurology, Peking University Shenzhen Hospital, Shenzhen, China.

Background: Ischemic Stroke (IS) is the most common neurological emergency disease and has become the second most frequent cause of death after coronary artery disease in 2015. Owing to its high fatality rate and narrow therapeutic time window, early identification and prevention of potential stroke is becoming increasingly important.

Methods: We used meta-analysis and bioinformatics mining to explore disease-related pathways and regulatory networks after combining messengerRNA (mRNA) and miRNA expression analyses. Read More

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http://dx.doi.org/10.1186/s12881-020-00994-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106706PMC