2,231 results match your criteria BMC Medical Genetics [Journal]


Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.

BMC Med Genet 2020 Jul 6;21(1):144. Epub 2020 Jul 6.

State Key Laboratory of Reproductive Medicine, The Centre for Clinical Reproductive Medicine and Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, P. R. China.

Background: Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still lack a genetic diagnosis. Read More

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http://dx.doi.org/10.1186/s12881-020-01077-zDOI Listing

Association of interleukin 2, interleukin 12, and interferon-γ with intervertebral disc degeneration in Iranian population.

BMC Med Genet 2020 Jul 3;21(1):143. Epub 2020 Jul 3.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.

Background: Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been proposed to play roles in pathophysiology of disease. Read More

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http://dx.doi.org/10.1186/s12881-020-01081-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333426PMC

Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis.

BMC Med Genet 2020 Jul 3;21(1):142. Epub 2020 Jul 3.

Faculty of Medicine and Odontostomatology, University of Technical and Technological Sciences of Bamako (USTTB), 1805, Point G, Bamako, Mali.

Background: Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.

Methods: We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy Malian women using PCR. Read More

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http://dx.doi.org/10.1186/s12881-020-01072-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333399PMC

A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report.

BMC Med Genet 2020 Jul 1;21(1):141. Epub 2020 Jul 1.

Department of Surgery, National Hospital Organization, Kure Medical Center and Chugoku Cancer Center, 3-1, Aoyama-cho, Kure City, Hiroshima, 737-0023, Japan.

Background: Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding region. Immunohistochemical staining (IHC) of DNA mismatch repair (MMR) proteins (e.g. Read More

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http://dx.doi.org/10.1186/s12881-020-01079-xDOI Listing

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.

BMC Med Genet 2020 Jun 30;21(1):140. Epub 2020 Jun 30.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Background: Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, neutropenia and a friendly character. It is associated with mutations of the vacuolar protein sorting 13 homolog B (VPS13B) gene, which is involved in the development of the ocular, hematological and central nervous systems. This gene encodes a transmembrane protein playing a crucial role in preserving the integrity of the Golgi complex. Read More

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http://dx.doi.org/10.1186/s12881-020-01075-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325105PMC

A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.

BMC Med Genet 2020 Jun 29;21(1):138. Epub 2020 Jun 29.

Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Postal Code: 7134767617, Iran.

Background: Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, thus pathogenic mutations in this gene can cause DHP deficiency. To date, several variations in the DPYS gene have been reported but only 23 of them have been confirmed to be pathogenic. Read More

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http://dx.doi.org/10.1186/s12881-020-01070-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325154PMC

Role of TSP-1 as prognostic marker in various cancers: a systematic review and meta-analysis.

BMC Med Genet 2020 Jun 29;21(1):139. Epub 2020 Jun 29.

Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Background: Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1.

Methods: Twenty-four studies with a total of 2379 patients were included. Read More

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http://dx.doi.org/10.1186/s12881-020-01073-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325168PMC

First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.

BMC Med Genet 2020 Jun 26;21(1):137. Epub 2020 Jun 26.

AP-HM, Centre de Néphrologie et Transplantation Rénale, CHU de la Conception, AP-HM, Marseille, France.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathogenicity of rare variants needs to be addressed, especially in patients with mild phenotypes.

Case Presentation: The patient, a 37-year-old female, presented with a persistent proteinuria after an otherwise uncomplicated first pregnancy. Read More

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http://dx.doi.org/10.1186/s12881-020-01071-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320597PMC

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

BMC Med Genet 2020 Jun 26;21(1):136. Epub 2020 Jun 26.

Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.

Background: Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecular cause for Alkuraya-Kučinskas syndrome. Most of the reported mutations in KIAA1109 gene result in premature termination of pregnancies or neonatal deaths while a few mutations have been reported in surviving patients with global developmental delay and intellectual disability. Read More

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http://dx.doi.org/10.1186/s12881-020-01074-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318400PMC

Ancestry effects on type 2 diabetes genetic risk inference in Hispanic/Latino populations.

BMC Med Genet 2020 Jun 25;21(Suppl 2):132. Epub 2020 Jun 25.

School of Biological Sciences, Georgia Institute of Technology, 950 Atlantic Drive, Atlanta, GA, 30332, USA.

Background: Hispanic/Latino (HL) populations bear a disproportionately high burden of type 2 diabetes (T2D). The ability to predict T2D genetic risk using polygenic risk scores (PRS) offers great promise for improved screening and prevention. However, there are a number of complications related to the accurate inference of genetic risk across HL populations with distinct ancestry profiles. Read More

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http://dx.doi.org/10.1186/s12881-020-01068-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315475PMC

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.

BMC Med Genet 2020 Jun 23;21(1):135. Epub 2020 Jun 23.

Department of Gastroenterology, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.

Background: NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female infant with elevated liver transaminases, developmental delay, epilepsy (subclinical seizures), and constipation who possesses two compound heterozygous mutations in NGLY1.

Case Presentation: The proband was admitted to the Department of Gastroenterology, Children's Hospital of Soochow University, with elevated liver transaminases. Read More

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http://dx.doi.org/10.1186/s12881-020-01067-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310492PMC

MiRNA155HG polymorphisms influenced the risk of liver cancer among the Han Chinese population.

BMC Med Genet 2020 Jun 19;21(1):134. Epub 2020 Jun 19.

The College of Basic Medicine, The Shaanxi University of Chinese Medicine, Xianyang, 712046, Shaanxi, China.

Background: Liver cancer is one of the most common cancers in the world. The primary aim of this research was to discover the correlation between single nucleotide polymorphisms (SNPs) of the MIR155HG and liver cancer risk.

Methods: The selected SNPs in MIR155HG were genotyped utilizing the Agena MassARRAY platform. Read More

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http://dx.doi.org/10.1186/s12881-020-01064-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304092PMC

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

BMC Med Genet 2020 Jun 18;21(1):133. Epub 2020 Jun 18.

The Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Add: No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.

Background: Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e. Read More

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http://dx.doi.org/10.1186/s12881-020-01069-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302341PMC

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.

BMC Med Genet 2020 Jun 17;21(1):131. Epub 2020 Jun 17.

The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University (Zhengzhou, China), No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.

Background: X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. However, the mutations reported to date do not fully explain the disorder. Read More

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http://dx.doi.org/10.1186/s12881-020-01063-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302398PMC

Clinical significance and biological mechanisms of glutathione S-transferase mu gene family in colon adenocarcinoma.

BMC Med Genet 2020 Jun 15;21(1):130. Epub 2020 Jun 15.

School of Public Health, Guangxi Medical University, 22 Shuang Yong Road, Nanning, 530021, Guangxi Zhuang Autonomous Region, People's Republic of China.

Background: Colon adenocarcinoma (COAD) is the most common form of colon cancer. The glutathione S-transferase Mu (GSTM) gene belongs to the GST gene family, which functions in cell metabolism and detoxification. The relationship between GSTM and COAD and the underlying mechanism remain unknown. Read More

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http://dx.doi.org/10.1186/s12881-020-01066-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296959PMC

Genetic variants of VDR and CYP2R1 affect BMI independently of serum vitamin D concentrations.

BMC Med Genet 2020 Jun 13;21(1):129. Epub 2020 Jun 13.

Department of Internal Medicine and Oncology, Semmelweis University Faculty of Medicine, 1098 Korányi S. u. 2/a, Budapest, Hungary.

Background: Vitamin D metabolism and obesity have been linked by several studies, however the reason for this association is unclear. Our objective was to investigate potential correlations between genetic variants in key enzymes of vitamin D metabolism and the body mass index on a representative and random sample of Hungarian adults.

Methods: Altogether 462 severely vitamin D deficient individuals were studied at the end of winter in order to decrease environmental and maximize any relevant genetic effect. Read More

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http://dx.doi.org/10.1186/s12881-020-01065-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293123PMC

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.

BMC Med Genet 2020 Jun 12;21(1):128. Epub 2020 Jun 12.

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

Background: Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal ganglia and chornea. Read More

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http://dx.doi.org/10.1186/s12881-020-01062-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291468PMC

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

BMC Med Genet 2020 Jun 9;21(1):127. Epub 2020 Jun 9.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share of HL cases. In the present study, Whole exome sequencing (WES) was applied to investigate the underlying etiology of HL in an Iranian patient with ARNSHL. Read More

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http://dx.doi.org/10.1186/s12881-020-01061-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285524PMC

A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.

BMC Med Genet 2020 Jun 8;21(1):126. Epub 2020 Jun 8.

Department of Dermatology, Northwest Hospital, The Second Hospital Affiliated to Xi'an Jiaotong University, Xi'an, China.

Background: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever, and long clubbed fingers and toes with joint contractures, partially with progressive lipomuscular atrophy, emaciation, hepatosplenomegaly and basal ganglion calcification.

Case Presentation: We presented a sporadic case of NNS with compound heterozygous mutations in the PSMB8 gene. Read More

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http://dx.doi.org/10.1186/s12881-020-01060-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278201PMC

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.

BMC Med Genet 2020 Jun 5;21(1):124. Epub 2020 Jun 5.

DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.

Background: The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich protein (WASp), has wide clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and X-linked neutropaenia. In many cases, the diagnosis of WAS in first affected males is delayed, because patients may not present with the classic signs and symptoms, which may intersect with other thrombocytopenia causes. Read More

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http://dx.doi.org/10.1186/s12881-020-01054-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275612PMC

Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania.

BMC Med Genet 2020 Jun 5;21(1):125. Epub 2020 Jun 5.

Sickle Cell Program, Department of Hematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.

Background: Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the levels vary from one individual to another. Most research has focused on common genetic variants which differ across populations and hence do not fully account for HbF variation. Read More

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http://dx.doi.org/10.1186/s12881-020-01059-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275552PMC
June 2020
2.083 Impact Factor

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.

BMC Med Genet 2020 Jun 3;21(1):122. Epub 2020 Jun 3.

Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, University of Sfax, Road Sidi Mansour Km 6, BP 1177, 3018, Sfax, Tunisia.

Background: Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expression has been suggested in the implication of OTSC pathogenesis.

Methods: A case-control association study of rs2228568, rs7844539, rs3102734 and rs2073618 single nucleotide polymorphisms (SNPs) in the OPG gene was performed in a Tunisian-North African population composed of 183 unrelated OTSC patients and 177 healthy subjects. Read More

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http://dx.doi.org/10.1186/s12881-020-01036-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268516PMC

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.

BMC Med Genet 2020 Jun 3;21(1):123. Epub 2020 Jun 3.

Department of Neurology, Peking University First Hospital, 8 Xishiku Street Xicheng District, Beijing, 100034, China.

Background: Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more than 76 disease-causing loci have been identified in hereditary spastic paraplegia patients. Read More

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http://dx.doi.org/10.1186/s12881-020-01053-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268315PMC

Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies.

BMC Med Genet 2020 Jun 1;21(1):118. Epub 2020 Jun 1.

Division of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, 6 Sipulan Road, Langfang, 065201, China.

Background: Fanconi anemia (FA) is the most common inherited bone marrow failure (BMF) syndrome with 22 related genes identified. The ALDH2 rs671variant has been proved related to accelerate the progression of BMF in FA patients. The phenotype and genetic basis of Chinese FA patients have not been investigated yet. Read More

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http://dx.doi.org/10.1186/s12881-020-01057-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268325PMC
June 2020
2.083 Impact Factor

The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report.

BMC Med Genet 2020 Jun 1;21(1):119. Epub 2020 Jun 1.

Department of Cardiology, Shenzhen Second People's Hospital, the First Affiliated Hospital of Shenzhen University Health Science Center, No. 3002, Sungang West Road, Futian District, Shenzhen, 518035, China.

Background: Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. Although it has been recognized as one of the genetically mediated vascular disorders, the genetic pathogenesis of SCAD remains obscure to date.

Case Presentation: In this report, we presented a rare case of pregnancy-associated SCAD in a young woman that occurred in multiple coronary arteries within a short period. Read More

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http://dx.doi.org/10.1186/s12881-020-01058-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268224PMC

Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease.

BMC Med Genet 2020 Jun 1;21(1):120. Epub 2020 Jun 1.

Department of Otolaryngology-Head and Neck Surgery, The Second Affiliated Hospital, Xi'an Jiaotong University, NO. 157 Xi Wu Road, Xi'an, 710004, Shaan'xi Province, China.

Background: Familial benign chronic pemphigus, also known as Hailey-Hailey disease (HHD), is a clinically rare bullous Dermatosis. However the mechanism has not been clarified. The study aim to detect novel mutations in exons of ATP2C1 gene in HHD patients; to explore the possible mechnism of HHD pathogenesis by examining the expression profile of hSPCA1, miR-203, p63, Notch1 and HKII proteins in the skin lesions of HHD patients. Read More

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http://dx.doi.org/10.1186/s12881-020-01056-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268385PMC
June 2020
2.083 Impact Factor

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.

BMC Med Genet 2020 Jun 1;21(1):121. Epub 2020 Jun 1.

Key Laboratory for Genetic Hearing Disorders in Shandong, Binzhou Medical University, 346 Guanhai Road, Yantai, 264003, Shandong, P. R. China.

Background: The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP - 4 and TRIOBP-1. Among them, TRIOBP-5/- 4 are expressed in the inner ears and crucial for maintaining the structure and function of the stereocilia. Read More

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http://dx.doi.org/10.1186/s12881-020-01055-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268695PMC

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.

BMC Med Genet 2020 May 29;21(1):117. Epub 2020 May 29.

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Background: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and early onset of degenerative osteoarthritis. Clinical diagnosis can be challenging due to the late-onset of the disease and lack of systemic metabolic abnomalites. Read More

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http://dx.doi.org/10.1186/s12881-020-01052-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260818PMC

Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.

BMC Med Genet 2020 May 27;21(1):116. Epub 2020 May 27.

Department of Cardiology, Tianjin Medical University General Hospital, Tianjin, 300070, China.

Background: Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important role in PPGL. Read More

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http://dx.doi.org/10.1186/s12881-020-01049-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254674PMC

The association between genetic variants in lactotransferrin and dental caries: a meta- and gene-based analysis.

BMC Med Genet 2020 May 27;21(1):114. Epub 2020 May 27.

Division of Statistics, School of Economics, Shanghai University, 99 Shangda Rd, Baoshan Dist, Shanghai, 200444, China.

Background: The pathogenesis of dental caries remains unclear, with increasing evidence suggesting that genetic susceptibility plays an essential role. Previous studies have reported the association between genetic polymorphisms in lactotransferrin (LTF) and the risk of dental caries with inconsistent results.

Methods: A systematic literature search of the PubMed, Cochrane Library, HuGE and Google Scholar databases was performed by two authors independently for papers published before December 5, 2019 on the association between genetic variants in LTF and the risk of dental caries. Read More

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http://dx.doi.org/10.1186/s12881-020-01029-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251739PMC

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.

BMC Med Genet 2020 May 27;21(1):115. Epub 2020 May 27.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing, 100730, China.

Background: Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations.

Methods: We recruited a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydactyly, and mild short stature. Read More

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http://dx.doi.org/10.1186/s12881-020-01040-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251693PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247288PMC
May 2020
2.083 Impact Factor

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247276PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247178PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238556PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236518PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229621PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229597PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229611PMC

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229588PMC

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 05 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 05 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 05 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 05 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 05 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 05 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 05 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 05 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 05 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