Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy.
10.3760/cma.j.cn511374-20191210-00630
- Author:
Chunlian LIU
1
;
Yousheng YAN
;
Junli ZHAO
;
Lingxia HA
;
Xian XU
Author Information
1. Center for Reproductive Medicine, General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China. liucl1981@163.com.
- Publication Type:Journal Article
- MeSH:
Adaptor Proteins, Signal Transducing/genetics*;
Apoptosis Regulatory Proteins/genetics*;
Charcot-Marie-Tooth Disease/genetics*;
Child;
Female;
Fibula/abnormalities*;
Homozygote;
Humans;
Mutation;
Nerve Tissue Proteins/genetics*;
Pedigree
- From:
Chinese Journal of Medical Genetics
2020;37(11):1244-1246
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a pedigree affected with Charcot-Marie-Tooth (CMT) disease through high-throughput sequencing.
METHODS:Potential variants of the genes associated with CMT were screened by next-generation sequencing (NGS) of the members of the pedigree.
RESULTS:NGS has revealed that the two affected sisters both harbored homozygous c.1A>G variant of the GDAP1 gene, which caused replacement of the first amino acid Methionine by Valine (p.Met1Val). Their parents were both carriers of the heterozygous c.1A>G variant. The variant was unreported previously and has an extremely low frequency in the population. Meanwhile, one of the sisters and the mother also carried heterozygous c.710A>T variant of the BAG3 gene.
CONCLUSION:The homozygous c.1A>G variant of the GDAP1 gene probably underlay the CMT in both children. Above result has enabled clinical diagnosis and genetic counseling for this pedigree.
