{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T18:07:36Z","timestamp":1780942056155,"version":"3.54.1"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T00:00:00Z","timestamp":1591920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Xeroderma pigmentosum (XP) is a rare photosensitive syndrome, which is divided into eight complementation groups (XP\u2010A to XP\u2010G and XPV) and characterized by skin cancers diagnosed at early age. A family of seven members (age range between 5\u00a0and\u00a047\u00a0years) with carriers of the novel nonsense mutation that causes XP\u2010E type were included in the current study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>DNA was isolated from peripheral blood samples of the proband, and cancer predisposition genes were sequenced with next\u2010generation sequencing. The demographic features and the laboratory, clinical, and histopathological findings of patients were evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the proband, squamous cell carcinoma was first diagnosed in the right\u2010eye cornea at the age of 13\u00a0years and then in the left\u2010eye cornea at the age of 15\u00a0years. Later, the patient was diagnosed with basosquamous cell carcinoma on the\u00a0dorsum of the nose at the age of 18\u00a0years. After genetic analysis, a novel nonsense c.1063C&gt;T(p.Arg355Ter) pathogenic variation that causes XP\u2010E type was detected as homozygous in the\u00a0DDB2 gene of the\u00a0proband and her siblings, 11 and 5\u00a0years of age, and as heterozygous in her parents and a 22\u2010year\u2010old brother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Because of the occurrence of early termination codon, truncated nonfunctional proteins or proteins with deleterious loss or gain\u2010of\u2010function activities are synthesized in nonsense mutation. Thus, to avoid the development of pathological lesions, it is important that such patients with nonsense mutation stay away from agents that might cause DNA damage and develop an appropriate lifestyle according to this condition.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.14957","type":"journal-article","created":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T12:27:19Z","timestamp":1591964839000},"page":"989-996","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group\u2013E"],"prefix":"10.1111","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5032-7429","authenticated-orcid":false,"given":"Ebru","family":"Karag\u00fcn","sequence":"first","affiliation":[{"name":"Duzce University Medical School Duzce 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