Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
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.
Baxter
Rachel V
RV
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.
Ben Othmane
Kamel
K
Rochelle
Julie M
JM
Stajich
Jason E
JE
Hulette
Christine
C
Dew-Knight
Susan
S
Hentati
Faycal
F
Ben Hamida
Mongi
M
Bel
S
S
Stenger
Judy E
JE
Gilbert
John R
JR
Pericak-Vance
Margaret A
MA
Vance
Jeffery M
JM
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
D018389:Codon, Nonsense; C118663:GDAP protein; D009419:Nerve Tissue Proteins