CMT4D (NDRG1 mutation): genotype-phenotype correlations

J Peripher Nerv Syst. 2013 Sep;18(3):261-5. doi: 10.1111/jns5.12039.

Abstract

Charcot-Marie-Tooth (CMT) disease is a heterogeneous condition with a large number of clinical, electrophysiological and pathological phenotypes. More than 40 genes are involved. We report a child of gypsy origin with an autosomal recessive demyelinating phenotype. Clinical data, familial history, and electrophysiological studies were in favor of a CMT4 sub-type. The characteristic N-Myc downstream-regulated gene 1 (NDRG1) mutation responsible for this CMT4D phenotype was confirmed: p.R148X. The exact molecular function of the NDRG1 protein has yet to be elucidated.

Keywords: CMT4D; Charcot-Marie-Tooth disease; HSMN-Lom; NDRG1; electron microscopy.

Publication types

  • Case Reports

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Child
  • Genotype
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Microscopy, Electron, Transmission
  • Mutation / genetics*
  • Phenotype
  • Refsum Disease / genetics*
  • Refsum Disease / pathology
  • Sural Nerve / pathology
  • Sural Nerve / ultrastructure

Substances

  • Cell Cycle Proteins
  • Intracellular Signaling Peptides and Proteins
  • N-myc downstream-regulated gene 1 protein

Supplementary concepts

  • Neuropathy, hereditary motor and sensory, LOM type