Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report
Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We repo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 19, 2020 Category: Genetics & Stem Cells Authors: Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti and Alberto Berardi Tags: Case report Source Type: research
Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster
Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. C... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 18, 2020 Category: Genetics & Stem Cells Authors: Giovanni Brandi, Alessandro Rizzo, Marzia Deserti, Valeria Relli, Valentina Indio, Sofia Bin, Milena Pariali, Andrea Palloni, Stefania De Lorenzo, Francesco Tovoli and Simona Tavolari Tags: Research article Source Type: research
Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees
Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 18, 2020 Category: Genetics & Stem Cells Authors: Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian and Samira Asgharzade Tags: Research article Source Type: research
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usua... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 16, 2020 Category: Genetics & Stem Cells Authors: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan and Tao Bo Tags: Case report Source Type: research
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report
Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral b... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 13, 2020 Category: Genetics & Stem Cells Authors: Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao and Ming Sang Tags: Case report Source Type: research
Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report
Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient c... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 11, 2020 Category: Genetics & Stem Cells Authors: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu and Zhichun Feng Tags: Case report Source Type: research
Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene —a case report
Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually prese... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 10, 2020 Category: Genetics & Stem Cells Authors: Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang and Wenzhe Zhou Tags: Case report Source Type: research
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenoty... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 10, 2020 Category: Genetics & Stem Cells Authors: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee and Brendan Lanpher Tags: Case report Source Type: research
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinic... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 10, 2020 Category: Genetics & Stem Cells Authors: Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto and Carlo Foresta Tags: Case report Source Type: research
The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility
Neonatal hyperbilirubinemia (NNH) is a common disease in newborns. This research study aimed to assess the associations between uridine diphospho-glucuronate-glucuronosyltransferase 1A1 (UGT1A1, c.-3279 T > G)... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 6, 2020 Category: Genetics & Stem Cells Authors: Zijin Li, Li Song and Lihong Hao Tags: Research article Source Type: research
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report
Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs furthe... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 5, 2020 Category: Genetics & Stem Cells Authors: Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian and Wen-Xiong Chen Tags: Case report Source Type: research
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study
To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 2, 2020 Category: Genetics & Stem Cells Authors: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral and Ishwar C. Verma Tags: Research article Source Type: research
Novel variants of ABCA4 in Han Chinese families with Stargardt disease
Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 31, 2020 Category: Genetics & Stem Cells Authors: Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang and Ji-Hong Wu Tags: Research article Source Type: research
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 31, 2020 Category: Genetics & Stem Cells Authors: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing and Weibo Xia Tags: Case report Source Type: research
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature
SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 31, 2020 Category: Genetics & Stem Cells Authors: Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang and Xiumin Wang Tags: Case report Source Type: research
