X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene

Muscle Nerve. 2005 Feb;31(2):252-5. doi: 10.1002/mus.20166.

Abstract

We report a family with X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser) mutation in the gap junction protein beta 1 (GJB1) gene was detected. The electrophysiological findings were consistent with a primary demyelinating neuropathy with secondary axonal loss and support this model of disease progression. All patients having the CMT phenotype and intermediate conduction velocities who are negative for CMT1A duplication/hereditary neuropathy with liability to pressure palsies (HNPP) deletion, and whose family shows a dominant trait without male-to-male transmission, should be screened for CMTX1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, X / genetics*
  • Connexins / genetics*
  • Female
  • Gap Junction beta-1 Protein
  • Gene Expression Regulation / genetics
  • Genetic Linkage
  • Humans
  • Isoleucine / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype*
  • Serine / genetics

Substances

  • Connexins
  • Isoleucine
  • Serine