Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. |
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| Authors: | 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 R Gilbert Margaret A Pericak-Vance Jeffery M Vance |
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| Institution: | 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. |
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| 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. |
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