6533b7d1fe1ef96bd125ccf8

RESEARCH PRODUCT

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Juan J. VílchezJavier García-planellsF. MayordomoTeresa SevillaIgnacio MarínLaia PedrolaEric LeguernFrancesc PalauFrancesc PalauAna CuestaMaría José Chumillas

subject

Malecongenital hereditary and neonatal diseases and abnormalitiesDNA Mutational AnalysisMolecular Sequence DataMutantMutation MissenseNeural ConductionGenes RecessiveNerve Tissue ProteinsLocus (genetics)BiologyPolymerase Chain ReactionFrameshift mutationCharcot-Marie-Tooth DiseaseGeneticsHumansMissense mutationAge of OnsetAlleleChildFrameshift MutationGeneAllelesGeneticsBrainInfantExonsAnatomyPhenotypeAxonsPedigreeAmino Acid SubstitutionHaplotypesSpinal CordCodon NonsenseSpainChild PreschoolFemaleLod ScoreVocal cord paresisChromosomes Human Pair 8Demyelinating Diseases

description

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.

yearjournalcountryeditionlanguage
2001-12-17Nature Genetics
https://doi.org/10.1038/ng798