A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

Neuromuscul Disord. 2004 May;14(5):325-8. doi: 10.1016/j.nmd.2004.02.009.

Abstract

Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arginine / genetics
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • DNA Mutational Analysis
  • Exons
  • Family Health*
  • Female
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Myelin Proteins / genetics*
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Threonine / genetics

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • Threonine
  • Arginine