The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
Cuesta
Ana
A
Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina, Consejo Superior de Investigaciones Científicas (CSIC), 46010 Valencia, Spain.
Pedrola
Laia
L
Sevilla
Teresa
T
García-Planells
Javier
J
Chumillas
María José
MJ
Mayordomo
Fernando
F
LeGuern
Eric
E
Marín
Ignacio
I
Vílchez
Juan J
JJ
Palau
Francesc
F
D017668:Age of Onset; D000483:Alleles; D019943:Amino Acid Substitution; D001369:Axons / Q000737:chemistry; D001921:Brain / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D009431:Neural Conduction; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013030:Spain / Q000453:epidemiology; D013116:Spinal Cord / Q000378:metabolism
D018389:Codon, Nonsense; C118663:GDAP protein; D009419:Nerve Tissue Proteins