Human piebaldism: six novel mutations of the proto-oncogene KIT

✍ Scribed by Petros Syrris; Kirsten Heathcote; Romeo Carrozzo; Koen Devriendt; Nursel Elçioglu; Christine Garrett; Meriel McEntagart; Nicholas D. Carter

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 127 KB
• Volume: 20
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9057

✦ Synopsis

Human piebaldism is a rare autosomal dominant disorder that comprises congenital patchy depigmentation of the scalp, forehead, trunk and limbs. It is caused by mutations in the cell-surface receptor tyrosine kinase gene (KIT, also c-kit). We screened three families and three isolated cases of piebaldism from different countries for mutations in the KIT gene using automated sequencing methods. We report six novel KIT point mutations: three missense (C788R, W835R, P869S) at highly conserved amino acid sites; one nonsense (Q347X) that results in termination of translation of the KIT gene in exon 6; and two splice site nucleotide substitutions (IVS13+2T>G, IVS17-1G>A) that are predicted to impair normal splicing. These mutations were not detected in over 100 normal individuals and are likely to be the cause of piebaldism in our subjects.