Title: Human piebaldism: six novel mutations of the proto-oncogene KIT
Authors: Syrris, Petros ×
Heathcote, Kirsten
Carrozzo, Romeo
Devriendt, Koenraad
Elçioglu, Nursel
Garrett, Christine
McEntagart, Meriel
Carter, Nicholas D #
Issue Date: Sep-2002
Series Title: Human Mutation vol:20 issue:3 pages:234
Abstract: 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.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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