{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:11:03Z","timestamp":1790032263172,"version":"4.0.1"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,22]],"date-time":"2012-11-22T00:00:00Z","timestamp":1353542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients belonging to xeroderma pigmentosum (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>) complementation group <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> comprise one\u2010third of all <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> patients. Only four major reports compiled larger groups of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> patients from southern <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>urope (12\u00a0pts), <jats:styled-content style=\"fixed-case\">N<\/jats:styled-content>orth <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>merica (16\u00a0pts) and <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>frica (14 and 56\u00a0pts) as well as their genetic background (46 <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> mutations). We identified 16 <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> patients from <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>ermany. Interestingly, only five patients exhibited severe sun sensitivity. The mean age of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> diagnosis was 9.4\u00a0years, and the median age of the first skin cancer was 7\u00a0years. Neurological symptoms were absent in all but two patients. Primary fibroblasts from all 16 patients showed reduced post\u2010<jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content> cell survival (mean: 50% vs 93% in normal cells) and reduced reactivation of an <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\u2010treated luciferase reporter gene (mean: 6.4% vs 30.7% in normal cells). <jats:italic>XPC<\/jats:italic> m<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> expression was also greatly reduced compared with normal cells (mean: 14.3%; range 8.3\u201325.7%) except in <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>47<jats:styled-content style=\"fixed-case\">MA<\/jats:styled-content> (274.1%). All patients carried homozygous <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> mutations. Four mutations have been described previously: c.1747_1748del<jats:styled-content style=\"fixed-case\">TG<\/jats:styled-content> (found in 4\/16), c.567 <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> (4\/16), c.1839 <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> (1\/16) and a complex insertion\/deletion mutation in exon 9 (1\/16). The novel frameshift mutations c.446_447del<jats:styled-content style=\"fixed-case\">AG<\/jats:styled-content> (2\/16), c.1525ins<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> (1\/16) and c.2271del<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> (1\/16) lead to truncated <jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content> proteins as does the novel nonsense mutation c.843<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> (1\/16). <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>47<jats:styled-content style=\"fixed-case\">MA<\/jats:styled-content> carries an interesting mutation (c.2538_2540del<jats:styled-content style=\"fixed-case\">ATC<\/jats:styled-content>; p.Ile812del) resulting in an in\u2010frame single amino acid deletion. This mutation results in a classical <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> phenotype, a non\u2010functional <jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content> protein, but elevated <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> m<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> expression. Our study indicates that extrinsic factors may contribute to <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> symptom severity due to nonsense\u2010mediated message decay.<\/jats:p>","DOI":"10.1111\/exd.12052","type":"journal-article","created":{"date-parts":[[2012,10,20]],"date-time":"2012-10-20T08:33:32Z","timestamp":1350722012000},"page":"24-29","source":"Crossref","is-referenced-by-count":22,"title":["Molecular genetic analysis of 16 <scp>XP<\/scp>\u2010<scp>C<\/scp> patients from <scp>G<\/scp>ermany: environmental factors predominately contribute to phenotype variations"],"prefix":"10.1111","volume":"22","author":[{"given":"Annika","family":"Sch\u00e4fer","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venerology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen 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