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| A novel KIT mutation results in piebaldism with progressive depigmentation |
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| Author(s): Richards KA, Fukai K, Oiso N, Paller AS |
| Source: JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Volume: 44 Issue: 2 Pages: 288-292 Published: FEB 2001 |
| Times Cited: 23 References: 36 |
| Abstract: Piebaldism is an autosomal dominant disorder of melanocyte development characterized by white skin (leukoderma) and white hair (poliosis). In general, piebaldism has been distinguished from vitiligo by the presence of lesions from birth, the hyperpigmented macules of depigmented and normal skin, and the static course. We hypothesized that an 8-year-old girl and her mother who had unusual piebaldism of a progressive nature would have a novel mutation of the KIT gene, the gene that is altered in patients with piebaldism, or of the MITF (microphthalmia activating transcription factor) gene, which would be expected to cause type II Waardenburg syndrome, but is associated with a phenotype of progressive depigmentation in mice. Genomic DNA was extracted from the blood of affected and unaffected family members, and the KIT and MITF genes were sequenced. Genetic analysis of genomic DNA from both the mother and daughter with progressive piebaldism revealed a novel Val620Ala (1859T> C) mutation in the KIT gene, which was not detected in family members without progressive piebaldism or in 52 normal control individuals. This KlT mutation affects the intracellular tyrosine kinase domain and thus predicts: a severs phenotype, as was the case in this family. Although other KIT mutations in the vicinity of codon 620 lead to the standard phenotype of static piebaldism, the Val620Ala mutation is novel and may result in a previously undescribed phenotype with melanocyte instability, leading to progressive loss of pigmentation as well as the progressive appearance of the hyperpigmented macules. |
| Document Type: Article |
| Language: English |
| Reprint Address: Paller, AS (reprint author), Northwestern Univ, Sch Med, Dept Dermatol, Div Dermatol 107, 2300 Childrens Pl, Chicago, IL 60614 USA |
Addresses:
1. Northwestern Univ, Sch Med, Dept Dermatol, Div Dermatol 107, Chicago, IL 60614 USA
2. Northwestern Univ, Sch Med, Dept Pediat, Chicago, IL 60614 USA
3. Osaka City Univ, Sch Med, Dept Dermatol, Osaka 545, Japan |
| Publisher: MOSBY, INC, 11830 WESTLINE INDUSTRIAL DR, ST LOUIS, MO 63146-3318 USA |
| Subject Category: Dermatology |
| IDS Number: 398EX |
| ISSN: 0190-9622 |
| DOI: 10.1067/mjd.2001.112221 |
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