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PMID: 1717985 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 88 ·No. 19 ·1991-10-01 ·Pages 8696-9

Giebel LB, Spritz RA

Abstract

Piebaldism is an autosomal dominant genetic disorder characterized by cogenital patches of skin and hair from which melanocytes are completely absent. A similar disorder of mouse, dominant white spotting (W), results from mutations of the c-Kit protooncogene, which encodes and receptor for mast/stem cell growth factor. We identified a KIT gene mutation in a proband with classic autosomal dominant piebaldism. This mutation results in a Gly----Arg substitution at codon 664, within the tyrosine kinase domain. This substitution was not seen in any normal individuals and was completely linked to the piebald phenotype in the proband's family. Piebaldism in this family thus appears to be the human homologue to dominant white spotting (W) of the mouse.

MeSH Terms
Amino Acid Sequence Base Sequence DNA Mutational Analysis Genes, Dominant Genetic Linkage Humans Molecular Sequence Data Oligonucleotides/chemistry Pedigree Piebaldism/genetics Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Protein-Tyrosine Kinases/genetics Proto-Oncogene Proteins/genetics Proto-Oncogene Proteins c-kit Proto-Oncogenes Receptors, Cell Surface/genetics
Chemicals
Oligonucleotides Proto-Oncogene Proteins Receptors, Cell Surface Protein-Tyrosine Kinases Proto-Oncogene Proteins c-kit
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Giebel L B
Department of Medical Genetics, University of Wisconsin, Madison 53706.
Spritz R A
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30 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.88.19.8696
Published
1991-10-01
Pages
8696-9
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC52576
Subset
IM
Grants
NIAMS NIH HHS · AR-39892 · United States
Databases
GENBANK
S57442, S57444, S57448, S57457, S57504, S57506, S57596, S58145, S58152, X59603
External Links
PubMed source DOI: 10.1073/pnas.88.19.8696 PMC Full Text View journal details
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