Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.
Charcot-Marie-Tooth disease type 1A, the most common inherited peripheral neuropathy, is associated with a submicroscopic DNA duplication of 1.5 Mb that can arise de novo, and which is flanked by a > 17 kb mosaic repeat. The PMP22 gene, encoding a peripheral myelin protein, maps within the duplication. In a subset of Charcot-Marie-Tooth patients, point mutations can occur within the gene. Thus, the alternative mechanisms of overexpression of PMP22 and structural alterations in the protein encoded can cause the disease phenotype.
Patel
P I
PI
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics
D009185:Myelin Proteins; C073687:PMP22 protein, human