Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

Hereditas. 2023 May 12;160(1):22. doi: 10.1186/s41065-023-00282-z.


Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of the X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4), also known as Cowchock syndrome. In this study, we enrolled a family with CMTX from the southeast region of China and identified a novel AIFM1 variant (NM_004208.3: c.931C>G; p.L311V) using whole exon sequencing technology. The results of our study may also be useful for genetic counseling, embryo screening of in vitro fertilization embryos, and prenatal genetic diagnosis.

Keywords: AIFM1; CMTX4; Charcot-Marie-Tooth disease; Molecular diagnosis.

MeSH terms

  • Apoptosis Inducing Factor / genetics
  • Charcot-Marie-Tooth Disease* / genetics
  • East Asian People
  • Exome Sequencing
  • Humans
  • Mutation
  • Pedigree


  • Apoptosis Inducing Factor
  • AIFM1 protein, human

Supplementary concepts

  • Cowchock syndrome