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

Syrris, P; Heathcote, K; Carrozzo, R; Devriendt, K; Elçioglu, N; Garrett, C; McEntagart, M; (2002) Human piebaldism: six novel mutations of the proto-oncogene KIT. Hum Mutat , 20 (3) 234 - ?. 10.1002/humu.9057.

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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.

Type: Article
Title: Human piebaldism: six novel mutations of the proto-oncogene KIT.
Location: United States
DOI: 10.1002/humu.9057
Language: English
Keywords: Adult, Alternative Splicing, Child, Child, Preschool, DNA, DNA Mutational Analysis, Female, Humans, Male, Mutation, Mutation, Missense, Piebaldism, Point Mutation, Proto-Oncogene Proteins c-kit
UCL classification: UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
URI: http://discovery.ucl.ac.uk/id/eprint/82063
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