{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:14:48Z","timestamp":1758759288991,"version":"3.44.0"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T00:00:00Z","timestamp":1655424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81874239","82073422"],"award-info":[{"award-number":["81874239","82073422"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Focal facial dermal dysplasias type III (FFDD III), commonly known as Setleis syndrome (SS; Online Mendelian Inheritance in Man #227260), is a type of focal facial dermal dysplasia, characterized by bitemporal atrophic skin lesion. The homozygous mutations in the <jats:italic>TWIST2<\/jats:italic> gene and copy number variants (CNV) at chromosome 1p36.22p36.21 were reported as the pathogenic mechanism. In this study, we collected DNA samples from a large Chinese family affected by FFDD and found no mutation of <jats:italic>TWSIT2<\/jats:italic>. To determine the underlying genetic cause, we performed a multipoint parameter linkage analysis and haplotype analysis of the family 1 and mapped SS to a region Chr1:14.074\u201320.524cM (rs2401090\u2013rs2294642). Copy number variant was identified by Sanger sequencing, which breakpoints were Chr1:11695972 and Chr1:11829858. The region contains eight genes, including <jats:italic>FBXO2<\/jats:italic>, <jats:italic>FBXO44<\/jats:italic>, <jats:italic>FBXO6<\/jats:italic>, <jats:italic>MAD2L2<\/jats:italic>, <jats:italic>DRAXIN<\/jats:italic>, <jats:italic>AK125437<\/jats:italic>, <jats:italic>AGTRAP<\/jats:italic>, and <jats:italic>C1orf167<\/jats:italic>. There were no candidate gene mutations of the second family with SS. Our study further reduced the size of CNV resulting in SS (Chr1:11696993\u201311829858) and focused on eight genes.<\/jats:p>","DOI":"10.1111\/1346-8138.16488","type":"journal-article","created":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T07:43:27Z","timestamp":1655451807000},"page":"1057-1061","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China"],"prefix":"10.1111","volume":"49","author":[{"given":"Qiaoyu","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuai","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Suzhou Dushu Lake Hospital  Suzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianbo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Suzhou Dushu Lake Hospital  Suzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumeng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaolan","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiaotong University School of Medicine  Shanghai 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