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
- Publication Type:Clinical Trail
- Keywords:
Lipid storage myopathy;
ETFDH gene;
Electron transfer;
Next generation sequencing
- 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.