[Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):1002-1005. doi: 10.3760/cma.j.issn.1003-9406.2019.10.013.
[Article in 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.

MeSH terms

  • Asian People
  • 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*

Substances

  • Electron-Transferring Flavoproteins
  • Iron-Sulfur Proteins
  • Oxidoreductases Acting on CH-NH Group Donors
  • electron-transferring-flavoprotein dehydrogenase

Supplementary concepts

  • Myopathy with Abnormal Lipid Metabolism