Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

Neurology. 2006 Oct 24;67(8):1476-8. doi: 10.1212/01.wnl.0000240068.21499.f5.

Abstract

We report a 32-year-old patient with Charcot-Marie-Tooth (CMT2B) including foot ulcerations. Genetic analysis identified a de novo mutation in the small GTP-ase late endosomal RAB7 gene, consisting of a c.471G>C, p.Lys157Asn missense mutation. This observation strongly supports the hypothesis that RAB7 mutations are responsible for CMT2B.

Publication types

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

MeSH terms

  • Acyltransferases / genetics
  • Adult
  • Asparagine
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Cytosine
  • Foot Ulcer / etiology
  • Genetic Variation
  • Guanine
  • Heterozygote
  • Humans
  • Lysine
  • Male
  • Mutation, Missense*
  • Pedigree
  • Serine C-Palmitoyltransferase
  • rab GTP-Binding Proteins / genetics*
  • rab7 GTP-Binding Proteins

Substances

  • rab7 GTP-Binding Proteins
  • rab7 GTP-binding proteins, human
  • Guanine
  • Asparagine
  • Cytosine
  • Acyltransferases
  • SPTLC1 protein, human
  • Serine C-Palmitoyltransferase
  • rab GTP-Binding Proteins
  • Lysine