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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 10
  • Publication Date: 2012
  • Doi Number: 10.1038/ng.2406
  • Journal Name: NATURE GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1080-1083
  • Hacettepe University Affiliated: Yes

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.