{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,3]],"date-time":"2025-08-03T23:05:54Z","timestamp":1754262354517,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81271946"],"award-info":[{"award-number":["81271946"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by<jats:italic>KIT<\/jats:italic>gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous<jats:italic>MC1R<\/jats:italic>(a gene which is associated with the hair color) variant (p.I120T) coordinating with<jats:italic>KIT<\/jats:italic>mutation may lead to auburn hair color and piebaldism. In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening of<jats:italic>KIT<\/jats:italic>and<jats:italic>MC1R<\/jats:italic>genes identified that only a splicing mutation (c. 2484+1G&gt;A) of<jats:italic>KIT<\/jats:italic>gene cosegregated with the auburn hair color and piebaldism. The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.<\/jats:p>","DOI":"10.1155\/2013\/689756","type":"journal-article","created":{"date-parts":[[2013,8,13]],"date-time":"2013-08-13T17:02:04Z","timestamp":1376413324000},"page":"1-6","source":"Crossref","is-referenced-by-count":7,"title":["A Novel Splicing Mutation of<i>KIT<\/i>Results in Piebaldism and Auburn Hair Color in a Chinese Family"],"prefix":"10.1155","volume":"2013","author":[{"given":"Yong-jia","family":"Yang","sequence":"first","affiliation":[{"name":"The Laboratory of Genetics and Metabolism, Hunan Children\u2019s Research Institute (HCRI), Hunan Children\u2019s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Zhao","sequence":"additional","affiliation":[{"name":"The Laboratory of Genetics and Metabolism, Hunan Children\u2019s Research Institute (HCRI), Hunan Children\u2019s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-yu","family":"He","sequence":"additional","affiliation":[{"name":"The Laboratory of Genetics and Metabolism, Hunan Children\u2019s Research Institute (HCRI), Hunan Children\u2019s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-ping","family":"Li","sequence":"additional","affiliation":[{"name":"The Laboratory of Basic Medicine, Hunan Children\u2019s Research Institute (HCRI), Hunan Children\u2019s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke-wei","family":"Wang","sequence":"additional","affiliation":[{"name":"The Department of Research, Hunan Children\u2019s Research 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