Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Nat Genet. 2002 Jan;30(1):21-2. doi: 10.1038/ng796. Epub 2001 Dec 17.


We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution
  • Cauda Equina / metabolism
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / epidemiology
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Genes, Recessive
  • Haplotypes / genetics
  • Humans
  • Mutation, Missense
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Tunisia / epidemiology


  • Codon, Nonsense
  • GDAP protein
  • Nerve Tissue Proteins