title: Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.
abstract: Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by white patches of skin and hair. Melanocytes are lacking in these hypopigmented regions, the result of mutations of the KIT gene, which encodes the cell surface receptor for steel factor (SLF). We describe the analysis of 26 unrelated patients with piebaldism-like hypopigmentation--17 typical patients, 5 with atypical clinical features or family histories, and 4 with other disorders that involve white spotting. We identified novel pathologic mutations or deletions of the KIT gene in 10 (59%) of the typical patients, and in 2 (40%) of the atypical patients. Overall, we have identified pathologic KIT gene mutations in 21 (75%) of 28 unrelated patients with typical piebaldism we have studied. Of the patients without apparent KIT mutations, none have apparent abnormalities of the gene encoding SLF itself (MGF), and genetic linkage analyses in two of these families are suggestive of linkage of the piebald phenotype to KIT. Thus, most patients with typical piebaldism appear to have abnormalities of the KIT gene.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: K
authors.initials: K
authors.lastname: Ezoe
authors.forename: S A
authors.initials: SA
authors.lastname: Holmes
authors.forename: L
authors.initials: L
authors.lastname: Ho
authors.forename: C P
authors.initials: CP
authors.lastname: Bennett
authors.forename: J L
authors.initials: JL
authors.lastname: Bolognia
authors.forename: L
authors.initials: L
authors.lastname: Brueton
authors.forename: J
authors.initials: J
authors.lastname: Burn
authors.forename: R
authors.initials: R
authors.lastname: Falabella
authors.forename: E M
authors.initials: EM
authors.lastname: Gatto
authors.forename: N
authors.initials: N
authors.lastname: Ishii
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005796:Genes; D005799:Genes, Dominant; D016298:Hematopoietic Cell Growth Factors / Q000172:deficiency / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016116:Piebaldism / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000172:deficiency / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit; D020794:Receptor Protein-Tyrosine Kinases / Q000172:deficiency / Q000235:genetics*; D016184:Receptors, Colony-Stimulating Factor / Q000172:deficiency / Q000235:genetics*; D017384:Sequence Deletion; D019089:Stem Cell Factor
chemical_list: D016298:Hematopoietic Cell Growth Factors; D011518:Proto-Oncogene Proteins; D016184:Receptors, Colony-Stimulating Factor; D019089:Stem Cell Factor; D019009:Proto-Oncogene Proteins c-kit; D020794:Receptor Protein-Tyrosine Kinases