Alpha thalassemia genotypes in Kuwait
The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred f... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 24, 2020 Category: Genetics & Stem Cells Authors: Adekunle Adekile, Jalaja Sukumaran, Diana Thomas, Thomas D ’Souza and Mohammad Haider Tags: Research article Source Type: research
Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutatio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 20, 2020 Category: Genetics & Stem Cells Authors: D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai and V. H. W. Dissanayake Tags: Case report Source Type: research
A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report
Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 20, 2020 Category: Genetics & Stem Cells Authors: Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao and Yun Yang Tags: Case report Source Type: research
Association of PNPLA3 rs738409 G/C gene polymorphism with nonalcoholic fatty liver disease in children: a meta-analysis
Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease worldwide. Current studies have shown that PNPLA3 (Patatin-like phospholipase domain containing 3) rs738409 G/... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 18, 2020 Category: Genetics & Stem Cells Authors: Shan Tang, Jing Zhang, Ting Ting Mei, Hai Qing Guo, Xin Huan Wei, Wen Yan Zhang, Ya Li Liu, Shan Liang, Zuo Peng Fan, Li Xia Ma, Wei Lin, Yi Rong Liu, Li Xia Qiu and Hai Bin Yu Tags: Research article Source Type: research
Association of MC4R (rs17782313) with diabetes and cardiovascular disease in Korean men and women
Diabetes is mostly assessed by the fasting glucose level. Several studies reported that serum fasting glucose levels and cardiovascular disease are associated with MC4R. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 17, 2020 Category: Genetics & Stem Cells Authors: Jae Woong Sull, Gitae Kim and Sun Ha Jee Tags: Research article Source Type: research
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma
Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable p... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 17, 2020 Category: Genetics & Stem Cells Authors: Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder and Douglas L. Riegert-Johnson Tags: Case report Source Type: research
Leptin receptor gene polymorphisms c.668A > G and c.1968G > C in Sudanese women with preeclampsia: a case-control study
Leptin receptor gene (LEPR) variants may affect the leptin levels and act as a risk factor for preeclampsia. Two LEPR gene missense variants rs1137101 (c.668A>G) and rs1805094 (c.1968G>C) were investigated in Sud... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 17, 2020 Category: Genetics & Stem Cells Authors: Amira Saad, Ishag Adam, Salah Eldin G. Elzaki, Hiba A. Awooda and Hamdan Z. Hamdan Tags: Research article Source Type: research
The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an updated meta-analysis
The CACNA1C gene was defined as a risk gene for schizophrenia in a large genome-wide association study of European ancestry performed by the Psychiatric Genomics Consortium. Previous meta-analyses focused on the ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 8, 2020 Category: Genetics & Stem Cells Authors: Yong-ping Liu, Xue Wu, Xi Xia, Jun Yao and Bao-jie Wang Tags: Research article Source Type: research
Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report
Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. Howev... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 3, 2020 Category: Genetics & Stem Cells Authors: Shanshan Xu, Qun Lian, Jinzhun Wu, Lingli Li and Jia Song Tags: Case report Source Type: research
Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence
Heroin dependence is a complex disease with multiple phenotypes. Classification of heroin users into more homogeneous subgroups on the basis of these phenotypes could help to identify the involved genetic fact... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 31, 2020 Category: Genetics & Stem Cells Authors: Yunxiao Li, Yongsheng Zhu, Jianghua Lai, Xugang Shi, Yuanyuan Chen, Jinyu Zhang and Shuguang Wei Tags: Research article Source Type: research
Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report
Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 29, 2020 Category: Genetics & Stem Cells Authors: Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu and Qingliu Fu Tags: Case report Source Type: research
A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss
MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss. It has been reported that mutations in MYH14 can result in autosomal dominant nonsyndromic deafnes... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 25, 2020 Category: Genetics & Stem Cells Authors: Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai and Haibo Wang Tags: Research article Source Type: research
Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis
Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expr... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 22, 2020 Category: Genetics & Stem Cells Authors: Halida P. Widyastuti, Trina M. Norden-Krichmar, Anna Grosberg and Michael V. Zaragoza Tags: Research article Source Type: research
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report
NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as c... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 22, 2020 Category: Genetics & Stem Cells Authors: Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr and Thomas Arnesen Tags: Case report Source Type: research
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families
Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50 –60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 gene... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 18, 2020 Category: Genetics & Stem Cells Authors: Yingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang and Shahid Mahmood Baig Tags: Research article Source Type: research
