{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T11:17:25Z","timestamp":1777461445052,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,11,13]],"date-time":"2017-11-13T00:00:00Z","timestamp":1510531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AR057212"],"award-info":[{"award-number":["AR057212"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease\u2010causing variants in the 10 families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exome sequencing identified seven homozygous sequence variants in different families, including: c.27delT in <jats:italic><jats:styled-content style=\"fixed-case\">FERMT<\/jats:styled-content>1<\/jats:italic>; c.836delA in <jats:italic><jats:styled-content style=\"fixed-case\">ABHD<\/jats:styled-content>5<\/jats:italic>; c.2453C&gt;T in <jats:italic><jats:styled-content style=\"fixed-case\">ERCC<\/jats:styled-content>5<\/jats:italic>; c.5314C&gt;T in <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic>; c.1630C&gt;T in <jats:italic><jats:styled-content style=\"fixed-case\">ALOXE<\/jats:styled-content>3<\/jats:italic>; c.502C&gt;T in <jats:italic><jats:styled-content style=\"fixed-case\">PPOX<\/jats:styled-content><\/jats:italic>; and c.10G&gt;T in <jats:italic><jats:styled-content style=\"fixed-case\">ALDH<\/jats:styled-content>3A2<\/jats:italic>. Sanger sequencing revealed three homozygous variants: c.1718\u00a0+\u00a02A&gt;G in <jats:italic><jats:styled-content style=\"fixed-case\">FERMT<\/jats:styled-content>1<\/jats:italic>; c.10459A&gt;T in <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic>; and c.92delT in the <jats:italic><jats:styled-content style=\"fixed-case\">KRT<\/jats:styled-content>14<\/jats:italic> genes as the underlying genetic cause of skin phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study supports the use of exome sequencing as a powerful, efficient tool for identifying genes that underlie rare monogenic skin disorders.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.13778","type":"journal-article","created":{"date-parts":[[2017,11,13]],"date-time":"2017-11-13T06:05:15Z","timestamp":1510553115000},"page":"1406-1413","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families"],"prefix":"10.1111","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9464-9262","authenticated-orcid":false,"given":"Khadim","family":"Shah","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"},{"name":"Human Medical Genetics and Genomics Program University of Colorado School of Medicine Aurora CO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabba","family":"Mehmood","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abid","family":"Jan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"},{"name":"Department of Biotechnology &amp; 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