Nature Genetics
30, 21 - 22 (2001)
Published online: 17 December 2001; | doi:10.1038/ng796
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21Rachel V. Baxter1, Kamel Ben Othmane1, Julie M. Rochelle1, Jason E. Stajich1, Christine Hulette1, Susan Dew-Knight1, Faycal Hentati2, Mongi Ben Hamida2, S. Bel2, Judy E. Stenger1, John R. Gilbert1, Margaret A. Pericak-Vance1
& Jeffery M. Vance11
Center for Human Genetics, Institute of Genomic Sciences and Policy, Research Park Building II Room 105, Box 2903, Duke University Medical Center, Durham, North Carolina 27710, USA. 2
Institut National de Neurologie, La Rabta, 1007 Tunis, Tunisia.
Correspondence should be addressed to Jeffery M. Vance jeff@chg.mc.duke.eduWe 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.
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