Ann Dermatol.  2017 Dec;29(6):801-803. 10.5021/ad.2017.29.6.801.

Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family

• Zheng Y
• Liu F
• Yang Y
• Liang Y

• KMID: 2395195
• DOI: http://doi.org/10.5021/ad.2017.29.6.801

Abstract

No abstract available.

MeSH Terms

Asian Continental Ancestry Group*
Humans
Mutation, Missense*
Piebaldism*

Figure

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  Fig. 1 (A~C) The skin lesions of the proband. (D) Pedigree of the Chinese family in this study.

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  Fig. 2 Chromas diagrams of this family. The upper one: the proband and her father's. The lower one: her mother and brother's.

Reference

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2. Oiso N, Fukai K, Kawada A, Suzuki T. Piebaldism. J Dermatol. 2013; 40:330–335. PMID: 22670867.

3. Lennartsson J, Rönnstrand L. Stem cell factor receptor/c-Kit: from basic science to clinical implications. Physiol Rev. 2012; 92:1619–1649. PMID: 23073628.

4. Wasag B, Chmara M, Legius E. Molecular characterization of two novel KIT mutations in patients with piebaldism. J Dermatol Sci. 2012; 66:78–79. PMID: 22264755.

5. Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci U S A. 1991; 88:8696–8699. PMID: 1717985.