Description:
PIEBALD TRAIT; PBT
V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17369 [PIEBALD TRAIT; PBT] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ASHKENAZI
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
KIT |
| Chromosomal Location |
4q12 |
| Allelic Variant 1 |
164920.0001; PIEBALDISM |
| Identified Mutation |
GLY664ARG; Reasoning that human piebaldism (172800), like mouse dominant white spotting (W), might be a result of mutation in the KIT gene, Spritz and Giebel [Am. J. Hum. Genet. 49 (Supplement): 38 (1991)] and Giebel and
Spritz [Proc. Natl. Acad. Sci., USA 88: 8696-8699 (1991)] designed primers for PCR amplification of the 21 coding exons. Studies of DNA from a patient with classic autosomal dominant piebaldism showed that he was heterozygous for a single base change, resulting in a glycine-to-arginine substitution at codon 664, within the ATP-binding site of the tyrosine kinase domain. |
| Remarks |
Ashkenazi; 6 aff generations; patches of absent pigmentation on chest, abdomen, & limbs; no anemia; others in kindred have white forelock &/or constipation; heterozygous for a GGG(gly)>AGG(Arg) substitution at codon 664 [Gly664Arg (G664R)] of c-kit proto-oncogene (KIT) |
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