title: Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
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.
authors.affiliation: 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.
authors.forename: Rachel V
authors.initials: RV
authors.lastname: Baxter
authors.forename: Kamel
authors.initials: K
authors.lastname: Ben Othmane
authors.forename: Julie M
authors.initials: JM
authors.lastname: Rochelle
authors.forename: Jason E
authors.initials: JE
authors.lastname: Stajich
authors.forename: Christine
authors.initials: C
authors.lastname: Hulette
authors.forename: Susan
authors.initials: S
authors.lastname: Dew-Knight
authors.forename: Faycal
authors.initials: F
authors.lastname: Hentati
authors.forename: Mongi
authors.initials: M
authors.lastname: Ben Hamida
authors.forename: S
authors.initials: S
authors.lastname: Bel
authors.forename: Judy E
authors.initials: JE
authors.lastname: Stenger
authors.forename: John R
authors.initials: JR
authors.lastname: Gilbert
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Vance
mesh_terms: D019943:Amino Acid Substitution; D002420:Cauda Equina / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D014416:Tunisia / Q000453:epidemiology
chemical_list: D018389:Codon, Nonsense; C118663:GDAP protein; D009419:Nerve Tissue Proteins