Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

• Published in: Nature genetics Vol. 30; no. 1; pp. 21 - 22
• Main Authors: Vance, Jeffery M, Baxter, Rachel V, Ben Othmane, Kamel, Rochelle, Julie M, Stajich, Jason E, Hulette, Christine, Dew-Knight, Susan, Hentati, Faycal, Ben Hamida, Mongi, Bel, S, Stenger, Judy E, Gilbert, John R, Pericak-Vance, Margaret A
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.01.2002
• Subjects: Amino Acid Substitution; Biological and medical sciences; Cauda Equina - metabolism; Charcot-Marie-Tooth Disease - classification; Charcot-Marie-Tooth Disease - epidemiology; Charcot-Marie-Tooth Disease - genetics; Chromosomes, Human, Pair 8 - genetics; Cloning; Codon, Nonsense; DNA Mutational Analysis; Fundamental and applied biological sciences. Psychology; ganglioside-induced differentiation-associated protein 1; GDAP1 gene; Genes; Genes, Recessive; Genes. Genome; Genomes; Haplotypes; Haplotypes - genetics; Humans; Molecular and cellular biology; Molecular genetics; Mutation; Mutation, Missense; Nerve Tissue Proteins - deficiency; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - physiology; peripheral neuropathy; Proteins; Tunisia - epidemiology; Tunisia; Genetic mapping; Neuromuscular diseases; Nervous system diseases; Autosome; Peripheral neuropathy; Protein; Genetic disease; Ganglioside; Gene; Charcot Marie Tooth disease; Chromosome 8; Central nervous system disease; Degenerative disease; Peripheral nerve disease; Differentiation; Spinal cord disease
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng796

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.