{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T08:58:36Z","timestamp":1778662716946,"version":"3.51.4"},"reference-count":35,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,6,25]],"date-time":"2013-06-25T00:00:00Z","timestamp":1372118400000},"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":[[2013,7]]},"abstract":"Abstract<\/jats:title>The xeroderma pigmentosum (XP<\/jats:styled-content>) group D protein is involved in nucleotide excision repair (NER<\/jats:styled-content>) as well as in basal transcription. Determined by the type of XPD<\/jats:styled-content><\/jats:italic> mutation, six different clinical entities have been distinguished: XP<\/jats:styled-content>, XP<\/jats:styled-content> with neurological symptoms, trichothiodystrophy (TTD<\/jats:styled-content>), XP<\/jats:styled-content>\u2044TTD<\/jats:styled-content> complex, XP<\/jats:styled-content>\u2044C<\/jats:styled-content>ockayne syndrome (CS<\/jats:styled-content>) complex or the cerebro\u2010oculo\u2010facio\u2010skeletal syndrome (COFS<\/jats:styled-content>). We identified nine new XPD<\/jats:styled-content><\/jats:italic>\u2010deficient patients. Their fibroblasts showed reduced post\u2010UV<\/jats:styled-content> cell survival, reduced NER<\/jats:styled-content> capacity, normal XPD<\/jats:styled-content><\/jats:italic> mRNA<\/jats:styled-content> expression and partly reduced XPD<\/jats:styled-content> protein expression. Six patients exhibited a XP<\/jats:styled-content> phenotype in accordance with established XP<\/jats:styled-content>\u2010causing mutations (c.2079G>A, p.R683Q; c.2078G>T, p.R683W; c.1833G>T, p.R601L; c.1878G>C, p.R616P; c.1878G>A, p.R616Q). One TTD<\/jats:styled-content> patient was homozygous for the known TTD<\/jats:styled-content>\u2010causing mutation p.R722W (c.2195C>T). Two patients were compound heterozygous for a TTD<\/jats:styled-content>\u2010causing mutation (c.366G>A, p.R112H) and a novel p.D681H (c.2072G>C) amino acid exchange, but exhibited different TTD<\/jats:styled-content> and XP<\/jats:styled-content>\/CS<\/jats:styled-content> complex phenotypes, respectively. Interestingly, the XP<\/jats:styled-content>\/CS<\/jats:styled-content> patient's cells exhibited a reduced but well detectable XPD<\/jats:styled-content> protein expression compared with hardly detectable XPD<\/jats:styled-content> expression of the TTD<\/jats:styled-content> patient's cells. Same mutations with different clinical outcomes in NER<\/jats:styled-content>\u2010defective patients demonstrate the complexity of phenotype\u2013genotype correlations, for example relating to additional genetic variations (parental consanguinity), different allelic expression due to SNP<\/jats:styled-content>s or differences in the methylation status.<\/jats:p>","DOI":"10.1111\/exd.12166","type":"journal-article","created":{"date-parts":[[2013,5,6]],"date-time":"2013-05-06T13:42:47Z","timestamp":1367847767000},"page":"486-489","source":"Crossref","is-referenced-by-count":16,"title":["Functional and molecular genetic analyses of nine newly identified XPD<\/scp><\/i>\u2010deficient patients reveal a novel mutation resulting in TTD<\/scp> as well as in XP<\/scp>\/CS<\/scp> complex phenotypes"],"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 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexei","family":"Gratchev","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venerology and Allergology University Medical Center Mannheim Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Seebode","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venerology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venerology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffen","family":"Schubert","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venerology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Laspe","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venerology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antje","family":"Apel","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venerology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Ohlenbusch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mladen","family":"Tzvetkov","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacology 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