A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

Neurogenetics. 2004 Sep;5(3):171-5. doi: 10.1007/s10048-004-0184-1. Epub 2004 Jun 17.

Abstract

We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Electrophysiology
  • Exons
  • Family Health
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation*
  • Myelin Proteins / genetics*
  • Neurons / metabolism
  • Pedigree
  • Peripheral Nervous System Diseases / genetics*
  • Phenotype
  • Phenylalanine / chemistry
  • Point Mutation
  • Sequence Analysis, DNA
  • Serine / chemistry

Substances

  • Myelin Proteins
  • PMP22 protein, human
  • Serine
  • Phenylalanine