{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T13:15:28Z","timestamp":1788614128638,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T00:00:00Z","timestamp":1684972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T00:00:00Z","timestamp":1684972800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Skin Research and Technology"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Piebaldism is a rare, autosomal dominant, and congenital pigmentary disorder characterized by stable depigmentation of the skin and white forelock. Mutations in KIT or SLUG genes result in piebaldism. Most individuals with piebaldism have a family history of the disorder.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this paper, we report a case of piebaldism with caf\u00e9\u2010au\u2010lait macules resulting from a novel mutation of KIT gene c.1982C\u00a0&gt;\u00a0T (p.Thr661Ile) in a three\u2010generation Chinese family. The whole\u2010exome sequencing, mitochondrial gene 3000X, and bioinformatics tools were used to identify the mutation in this new\u2010found pedigree. In addition, we searched the databases of \u201cPunmed, Chinese National Knowledge Infrastructure, CMJD, WANFANG MED ONLINE\u201d, reviewed 88 cases of piebaldism caused by KIT gene mutation, and summarized the relationship between clinical phenotype and genotype of piebaldism through logistic regression and other statistical methods.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The proband and her affected mother carried a heterozygous c.1982C\u00a0&gt;\u00a0T missense mutation (p.Thr661Ile) on KIT gene. Bioinformatics analysis hinted that it had potential pathogenicity. The data showed that piebaldism patients with caf\u00e8\u2010au\u2010lait macules had\u00a0\n                      <jats:italic>KIT<\/jats:italic>\n                      \u00a0mutations almost located in the intracellular tyrosine kinase domain and were mostly related to the severe clinical phenotype of piebaldism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The new heterozygous c.1982C\u00a0&gt;\u00a0T missense mutation on KIT caused piebaldism with caf\u00e9\u2010au\u2010lait macules in this Chinese family. This study provides a new reference index for clinicians to judge the severity of clinical phenotypes of piebaldism, broadens the understanding of the correlation between clinical phenotypes and genotypes of piebaldism, and provides reference of genetic counseling and prenatal diagnosis for affected families.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/srt.13352","type":"journal-article","created":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T05:36:47Z","timestamp":1684993007000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Piebaldism with caf\u00e9\u2010au\u2010lait macules resulting from a novel mutation of KIT gene in a three\u2010generation Chinese family"],"prefix":"10.1111","volume":"29","author":[{"given":"Xiaorong","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Xing","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Shijitan Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqiang","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuihao","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Affiliated Hospital of North China University of Science and Technology  Tangshan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Medical Center of Chinese PLA General Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,25]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"StatPearls [Internet]","author":"Shah M","year":"2022"},{"issue":"7","key":"e_1_2_8_3_1","first-page":"1259","article-title":"Clon\u2043ing and structural analysis of the human KIT gene\uff3bJ\uff3d","volume":"7","author":"Vandenbark 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