Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy.
10.3760/cma.j.issn.1003-9406.2019.10.013
- VernacularTitle:一例ETFDH基因复合杂合新变异导致的脂质沉积性肌病
- Author:
Yanjie XIA
1
;
Xiangdong KONG
Author Information
1. Center for Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China, kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
Electron-Transferring Flavoproteins;
genetics;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Iron-Sulfur Proteins;
genetics;
Lipid Metabolism, Inborn Errors;
genetics;
Muscular Dystrophies;
genetics;
Mutation;
Oxidoreductases Acting on CH-NH Group Donors;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(10):1002-1005
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential variation in an ethnic Han Chinese family affected with late-onset lipid storage myopathy.
METHODS:Next generation sequencing (NGS) was used to screen disease-related genes in the proband. Suspected mutation was validated with PCR and Sanger sequencing in two patients, their father, and 100 healthy controls.
RESULTS:Heterozygous c.770A>G (p.Tyr257Cys) and c.1395dupT (p.Gly466Tryfs) mutation were detected in the two patients. Their father was found to be heterozygous for the c.770A>G (p.Tyr257Cys) mutation, while the c.1395dupT (p.Gly466Tryfs) variation was not reported previously and not found among the healthy controls.
CONCLUSION:Mutations of the ETFDH gene probably underlie the pathogenesis in this family. The novel c.1395dupT (p.Gly466Tryfs) has enriched the mutation spectrum of EDFDH gene.
