{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T11:16:54Z","timestamp":1777461414635,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hyper\u2010 and hypo\u2010pigmented macules on the face, trunk, and extremities. The condition causes severe cosmetic problem which can lead to significant psychological distress to the patients and bear a negative impact on society. DUH is a condition with genetic heterogeneity. The <jats:italic>SASH1<\/jats:italic> gene was recently identified as pathogenic genes in DUH patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two families clinically diagnosed with dyschromatosis universalis hereditaria were enrolled. Whole\u2010exome sequencing combined with Sanger sequencing and bioinformatics analysis was performed in the probands. MutationTaster, CADD, SIFT, PolyPhen\u20102, and LRT software, and The American College of Medical Genetics and Genomics Standards and Guidelines were employed to assess the pathogenicity of detected missense mutations. One hundred healthy unrelated Chinese individuals were used as controls. All participants signed an informed consent form.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic screening revealed a heterozygous <jats:italic>SASH1<\/jats:italic> c.1547G&gt;A (p.Ser516Asn) mutation for patients in family 1, and <jats:italic>SASH1<\/jats:italic> c.1547G&gt;T (p.Ser516Ile) for family 2. Both such <jats:italic>de novo<\/jats:italic> mutations are located in a highly conserved SLY domain in <jats:italic>SASH1<\/jats:italic>, have not been previously reported in any publication, and were not detected in any control databases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The novel heterozygous mutations, <jats:italic>SASH1<\/jats:italic> c.1547G&gt;A and c.1547G&gt;T, are likely responsible for the DUH phenotype in these two families. Our study expands the mutation spectrum of DUH. Whole\u2010exome sequencing showed its efficiency in the diagnostic of hereditary skin disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23803","type":"journal-article","created":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T10:53:00Z","timestamp":1621853580000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Two novel <i>SASH1<\/i> mutations in Chinese families with dyschromatosis universalis hereditaria"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9221-9821","authenticated-orcid":false,"given":"Jia\u2010Wei","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Skin and Immune Diseases  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaerbati","family":"Habulieti","sequence":"additional","affiliation":[{"name":"Mckusick\u2010Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong\u2010rong","family":"Wang","sequence":"additional","affiliation":[{"name":"Mckusick\u2010Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong\u2010Lai","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Skin and Immune Diseases  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Mckusick\u2010Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.145"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2002.01129.x"},{"issue":"2","key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"2","DOI":"10.5070\/D366R7H4FD","article-title":"Dyschromatosis universalis hereditaria: a case report","volume":"17","author":"Udayashankar C","year":"2011","journal-title":"Dermatol Online J"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2002.00225.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2006.01522.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.09.037"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_9_1","unstructured":"National Library of Medicine. 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