{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T04:22:17Z","timestamp":1784262137528,"version":"3.55.0"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,8,18]],"date-time":"2019-08-18T00:00:00Z","timestamp":1566086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81360235"],"award-info":[{"award-number":["81360235"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. The adenosine deaminase RNA\u2010Specific (<jats:italic>ADAR<\/jats:italic>;OMIM: <jats:bold>*<\/jats:bold>146920) gene was identified as causing DSH. Although more than 200 mutations are reported, no research has included the pedigrees of ethnic minorities in China. To investigate clinical features and genetic factors among multi\u2010ethnic families, seven multi\u2010ethnic pedigrees with DSH were collected for analysis of hereditary characteristics and <jats:italic>ADAR<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All 15 exons and exon\u2013intron sequences of the <jats:italic>ADAR<\/jats:italic> gene were amplified and Sanger sequenced from 25 patients and 36 normal controls from seven multi\u2010ethnic DSH families with 100 healthy normal controls. Seven mutations were analyzed by Polyphen 2, SIFT and Provean. All mutations in <jats:italic>ADAR<\/jats:italic> with DSH were reviewed and genetic and clinical features were summarized for analysis. The ADEAMc domain may be a hot spot of <jats:italic>ADAR<\/jats:italic> mutations among patients with DSH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven novel mutations were identified in seven multi\u2010ethnic pedigrees: c.497delA(p.Arg105fs), c.3352C&gt;T(p.Gln1058*) and c.3722delT(p.Ser1181fs) were found in three Uygur families with DSH; c.1330A&gt;G(p.Val332Met) and c.2702A&gt;T(p.His841Leu) were found in two Kazakh pedigrees and c.1176G&gt;A(p.Lys326Glu) and c.2861G&gt;A(p.Arg892His) in two Hui pedigrees. We summarized 203 different mutations of <jats:italic>ADAR<\/jats:italic> from people with DSH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Seven novel mutations were identified in seven multi\u2010ethnic families with DSH. Our study expands the genetic spectrum of <jats:italic>ADAR<\/jats:italic> mutations in DSH.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.905","type":"journal-article","created":{"date-parts":[[2019,8,19]],"date-time":"2019-08-19T00:39:32Z","timestamp":1566175172000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Seven novel mutations of<i> ADAR<\/i> in multi\u2010ethnic pedigrees with dyschromatosis symmetrica hereditaria in China"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4757-8737","authenticated-orcid":false,"given":"Peng","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirong","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianyong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dezhi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Dermatology People's Hospital of Xinjiang Uygur Autonomous Region Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2010.04472.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2012.01661.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2008.00540.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2008.00493.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2004.11.004"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07133.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2011.01431.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/378209"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1304988111"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13849"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.15.10.5376"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes7120129"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23732.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2017.0207"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21011"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30036"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09666"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.11.011"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0255-1"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12401"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12130.x"}],"container-title":["Molecular Genetics &amp; 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