Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Hum Genet. 2005 Feb;116(3):222-4. doi: 10.1007/s00439-004-1218-3. Epub 2004 Nov 23.

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G-->T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Genes, Dominant
  • Heat-Shock Proteins
  • Humans
  • Mutation, Missense
  • Protein-Serine-Threonine Kinases / genetics*

Substances

  • HSPB8 protein, human
  • Heat-Shock Proteins
  • Protein-Serine-Threonine Kinases