{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:14:54Z","timestamp":1790032494242,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,4,15]],"date-time":"2018-04-15T00:00:00Z","timestamp":1523750400000},"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","award":["5265\/NRPU\/HEC\/2016"],"award-info":[{"award-number":["5265\/NRPU\/HEC\/2016"]}],"id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity, and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Whole genome SNP genotyping identified a 14\u2009Mb autozygous region segregating with the disease phenotype on chromosome 3p25.1. DNA sequencing of <jats:italic>XPC<\/jats:italic> gene revealed a founder homozygous splice site mutation (c.2251\u20101G&gt;C) in patients from six families (A\u2013F) and a homozygous nonsense mutation (c.1399C&gt;T; p.Gln467*) in patients of family G. This is the first report of <jats:italic>XPC<\/jats:italic> mutations, underlying XP phenotype, in Pakistani population.<\/jats:p>","DOI":"10.1111\/cga.12281","type":"journal-article","created":{"date-parts":[[2018,3,23]],"date-time":"2018-03-23T09:44:32Z","timestamp":1521798272000},"page":"18-21","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<i>XPC<\/i> gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect"],"prefix":"10.1111","volume":"59","author":[{"given":"Ambreen","family":"Ijaz","sequence":"first","affiliation":[{"name":"Department of Biotechnology Faculty of Life Sciences &amp; Informatics, BUITEMS  Quetta Pakistan"},{"name":"Department of Zoology Sardar Bahadur Khan Women's University  Quetta Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-6825","authenticated-orcid":false,"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases Taibah University Al Madinah Al Munawarah  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajab","family":"Gul","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Faculty of Life Sciences &amp; Informatics, BUITEMS  Quetta Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilas","family":"Batool","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Faculty of Life Sciences &amp; Informatics, BUITEMS  Quetta Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abrar","family":"Hussain","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Faculty of Life Sciences &amp; Informatics, BUITEMS  Quetta Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibtain","family":"Afzal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asthma Research Chair and Prince Naif Center for Immunology Research, College of Medicine King Saud University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khushnooda","family":"Ramzan","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamil","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Faculty of Life Sciences &amp; 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