Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy / 中华医学遗传学杂志

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.