A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

Neurogenetics. 2017 Dec;18(4):245-250. doi: 10.1007/s10048-017-0524-6. Epub 2017 Oct 3.


In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered cellular morphology, and a fragmented mitochondrial network were observed in the proband's fibroblasts. This new form of motor neuropathy expands the phenotypic spectrum of AIFM1 mutations and therefore, the AIFM1 gene should be considered in the diagnosis of hereditary motor neuropathies.

Keywords: AIFM1; Apoptosis inducing factor; Gene panel; Inherited peripheral neuropathies; Mitochondrial disorder.

MeSH terms

  • Apoptosis Inducing Factor / genetics*
  • Female
  • Genes, X-Linked / genetics
  • Humans
  • Infant
  • Male
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics*
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Proteins / genetics


  • AIFM1 protein, human
  • Apoptosis Inducing Factor
  • Proteins