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Human piebaldism: six novel mutations of the proto‐oncogene KIT
Author(s) -
Syrris Petros,
Heathcote Kirsten,
Carrozzo Romeo,
Devriendt Koen,
Elçioglu Nursel,
Garrett Christine,
McEntagart Meriel,
Carter Nicholas D.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9057
Subject(s) - biology , exon , genetics , missense mutation , point mutation , proto oncogene proteins c kit , gene , rna splicing , nonsense mutation , mutation , rna , stem cell , haematopoiesis , stem cell factor
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. © 2002 Wiley‐Liss, Inc.