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. , ...Daha Fazla

NATURE GENETICS, cilt.44, ss.1080-1083, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 44 Konu: 10
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1038/ng.2406
  • Dergi Adı: NATURE GENETICS
  • Sayfa Sayıları: ss.1080-1083

Özet

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.