Mutations of the KIT (Mast/Stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism

Journal Article · Sat Oct 31 23:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:6975323

Spritz, R A; Holmes, S A ^[1]; Ramesar, R; Greenberg, J; Beighton, P; Curtis, D

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1. Univ. of Wisconsin, Madison, WI (United States)

Piebaldism is a rare autosomal dominant disorder of pigmentation, characterized by congenital patches of white skin and hair from which melanocytes are absent. The authors have previously shown that piebaldism can result from missense and frameshift mutations of the KIT proto-oncogene, which encodes the cellular receptor tyrosine kinase for the mast/stem cell growth factor. Here, the authors report two novel KIT mutations associated with human piebaldism. A proximal frameshift is associated with a mild piebald phenotype, and a splice-junction mutation is associated with a highly variable piebald phenotype. They discuss the apparent relationship between the predicted impact of specific KIT mutations on total KIT-dependent signal transduction and the severity of the resultant piebald phenotypes. 35 refs., 5 figs.

• OSTI ID: 6975323
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMAL CELLS
CONNECTIVE TISSUE CELLS
ENZYMES
GENE MUTATIONS
GENES
GROWTH FACTORS
HYDROXY COMPOUNDS
MAST CELLS
MELANIN
MEMBRANE PROTEINS
MITOGENS
MUTATIONS
ONCOGENES
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PHOSPHORUS-GROUP TRANSFERASES
PHOSPHOTRANSFERASES
PIGMENTS
PROTEINS
RECEPTORS
SOMATIC CELLS
STEM CELLS
TRANSFERASES