Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia


ZIMON M., Baets J., Almeida-Souza L., DE VRIENDT E., NIKODINOVIC J., Parman Y. , ...More

NATURE GENETICS, vol.44, no.10, pp.1080-1083, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 10
  • Publication Date: 2012
  • Doi Number: 10.1038/ng.2406
  • Title of Journal : NATURE GENETICS
  • Page Numbers: pp.1080-1083

Abstract

Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.