scholarly journals Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A

2018 ◽  
Author(s):  
Yi You ◽  
Xiaodong Wang ◽  
Shan Li ◽  
Xiuli Zhao ◽  
Xue Zhang
Keyword(s):  
Exome Sequencing ◽  
Missense Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Tooth Type

A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot–Marie–Tooth type 2D in a Chinese family

2015 ◽  
Vol 37 (9) ◽  
pp. 782-787 ◽  
Author(s):  
Aping Sun ◽  
Xiangyi Liu ◽  
Mei Zheng ◽  
Qingli Sun ◽  
Yu Huang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Trna Synthetase ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Tooth Type

Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia

2018 ◽  
Vol 28 (5) ◽  
pp. 688-691 ◽  
Author(s):  
Hao Huang ◽  
Dong-Bo Ding ◽  
Liang-Liang Fan ◽  
Jie-Yuan Jin ◽  
Jing-Jing Li ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Chinese Family ◽  
Illumina Hiseq ◽  
Α Subunit ◽  
Pathogenic Genes ◽  
Whole Exome ◽  
Gene Filtering ◽  
Protein Dysfunction

AbstractBackgroundSCN5A encodes sodium-channel α-subunit Nav1.5. The mutations of SCN5A can lead to hereditary cardiac arrhythmias such as the long-QT syndrome type 3 and Brugada syndrome. Here we sought to identify novel mutations in a family with arrhythmia.MethodsGenomic DNA was isolated from blood of the proband, who was diagnosed with atrial flutter. Illumina Hiseq 2000 whole-exome sequencing was performed and an arrhythmia-related gene-filtering strategy was used to analyse the pathogenic genes. Sanger sequencing was applied to verify the mutation co-segregated in the family.Results and conclusionsA novel missense mutation in SCN5A (C335R) was identified, and this mutation co-segregated within the affected family members. This missense mutation was predicted to result in amplitude reduction in peak Na+ current, further leading to channel protein dysfunction. Our study expands the spectrum of SCN5A mutations and contributes to genetic counselling of families with arrhythmia.

scholarly journals Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

2015 ◽  
Vol 10 (10) ◽  
pp. 1696 ◽  
Author(s):  
Jun Zhang ◽  
A-ping Sun ◽  
Lu Tang ◽  
Qin Liao ◽  
Hui Zhang ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Tooth Type

Identification of a Homozygous Deletion within FGD4 in a Charcot-Marie-Tooth type 4H Family by Exome Sequencing

2021 ◽  
Author(s):  
Coskun Yarar ◽  
Hasan Bas ◽  
Gokalp Celik ◽  
Oguz Cilingir ◽  
Kursat Bora Carman ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Homozygous Deletion ◽  
Copy Number Variations ◽  
Sensory Impairment ◽  
Peripheral Neuropathies ◽  
Charcot Marie Tooth ◽  
Distal Muscle ◽  
Tooth Type ◽  
Generation Sequencing

AbstractCharcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripheral neuropathies by causing distal muscle weakness, sensory impairment, hyporeflexia, and skeletal deformities. Both of sequence and copy number variations (CNVs) of over 80 genes have been described in CMT patients so far, and FGD4 variants are among the uncommon causes of the disease. In this article, we present four siblings with early-onset CMT, who were found to carry a novel homozygous deletion within FGD4 gene by exome sequencing. Since CNVs of CMT-related genes other than PMP22 have been rarely described in literature and they are prone to be overlooked by next generation sequencing, this report confirms the importance of paying additional attention to these variants to increase diagnostic yield in CMT.

Sign in / Sign up

Export Citation Format

Share Document