{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:51Z","timestamp":1747146171046,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,27]],"date-time":"2020-03-27T00:00:00Z","timestamp":1585267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Piebaldism is a rare, autosomal dominant and congenital pigmentary disorder characterized by stable depigmentation of the skin and white forelock. Mutations in <jats:italic>KIT<\/jats:italic> or <jats:italic>SNAI2<\/jats:italic> genes result in piebaldism. Most individuals with piebaldism have a family history of the disorder. Herein, we report a 5\u2010month\u2010old Chinese girl with severe piebaldism but no family history thereof. She has white forelock and large patches of depigmentation in the jaw, central anterior trunk, perineum and extremities. We performed whole\u2010exome and Sanger sequencing and identified a de novo <jats:italic>KIT<\/jats:italic> mutation (NM_000222.2: c.2657G&gt;A, p.Gly886Val) in exon 18 of <jats:italic>KIT<\/jats:italic> in the proband. Currently, this mutation is located in the most extreme C\u2010terminal of the tyrosine kinase domain 2 of the <jats:italic>KIT<\/jats:italic> gene amongst all reported mutations and causes a severe clinical phenotype. We further reviewed literature on piebaldism and summarized 79 <jats:italic>KIT<\/jats:italic> gene mutations that lead to this disease. Our study may expand knowledge on the genotype\u2013phenotype correlation in piebaldism and serve as a reference for genetic counseling and prenatal diagnosis of affected families.<\/jats:p>","DOI":"10.1002\/ajmg.a.61576","type":"journal-article","created":{"date-parts":[[2020,3,27]],"date-time":"2020-03-27T10:38:10Z","timestamp":1585305490000},"page":"1321-1328","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp><i>KIT<\/i><\/scp>\u2010related piebaldism in a Chinese girl"],"prefix":"10.1002","volume":"182","author":[{"given":"Lei","family":"Zhu","sequence":"first","affiliation":[{"name":"Guangdong Medical College, College of Dermatology, Anhui Medical University  Guangzhou China"},{"name":"Guangdong Provincial Dermatology Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Yang","sequence":"additional","affiliation":[{"name":"Dermatology Hospital of Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhong","sequence":"additional","affiliation":[{"name":"Guangdong Medical College, College of Dermatology, Anhui Medical University  Guangzhou China"},{"name":"Guangdong Provincial Dermatology Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Qi","family":"Huang","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Dermatology Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Dermatology Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Cong","family":"Xu","sequence":"additional","affiliation":[{"name":"Guangdong Medical College, College of Dermatology, Anhui Medical University  Guangzhou China"},{"name":"Guangdong 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