Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
Baxter RV,
Ben Othmane K,
Rochelle JM,
Stajich JE,
Hulette C,
Dew-Knight S,
Hentati F,
Ben Hamida M,
Bel S,
Stenger JE,
Gilbert JR,
Pericak-Vance MA,
Vance JM.
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.
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.
PMID: 11743579 [PubMed - indexed for MEDLINE]