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

Rachel V. Baxter, Kamel Ben Othmane, Julie M. Rochelle, Jason E. Stajich, Christine Hulette, Susan Dew-Knight, Faycal Hentati, Mongi Ben Hamida, S. Bel, Judy E. Stenger, John Gilbert, Margaret A Pericak-Vance, Jeffery M Vance

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291 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)21-22
Number of pages2
JournalNature Genetics
Volume30
Issue number1
DOIs
StatePublished - Jan 1 2002
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Baxter, R. V., Othmane, K. B., Rochelle, J. M., Stajich, J. E., Hulette, C., Dew-Knight, S., Hentati, F., Hamida, M. B., Bel, S., Stenger, J. E., Gilbert, J., Pericak-Vance, M. A., & Vance, J. M. (2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genetics, 30(1), 21-22. https://doi.org/10.1038/ng796