Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

Tohoku J Exp Med. 1999 Jul;188(3):239-44. doi: 10.1620/tjem.188.239.

Abstract

Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics*
  • Gap Junction beta-1 Protein
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Deletion*

Substances

  • Connexins