Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease

J Med Genet. 1996 May;33(5):413-5. doi: 10.1136/jmg.33.5.413.

Abstract

A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine*
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / metabolism
  • Connexins / genetics*
  • DNA Primers
  • Female
  • Gap Junction beta-1 Protein
  • Genes, Dominant*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Tryptophan*
  • X Chromosome*

Substances

  • Connexins
  • DNA Primers
  • Tryptophan
  • Arginine