Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E

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dc.authoridKaragun, Ebru/0000-0002-5032-7429
dc.authoridOzcan, Yunus/0000-0002-2295-1152
dc.authorwosidKaragun, Ebru/ABB-7919-2020
dc.authorwosidOzcan, Yunus/AAD-4832-2021
dc.authorwosidGamsizkan, Mehmet/AAM-9833-2020
dc.contributor.authorKaragun, Ebru
dc.contributor.authorEroz, Recep
dc.contributor.authorGamsizkan, Mehmet
dc.contributor.authorBaysak, Sevim
dc.contributor.authorEyup, Yavuz
dc.contributor.authorOzcan, Yunus
dc.date.accessioned2021-12-01T18:46:57Z
dc.date.available2021-12-01T18:46:57Z
dc.date.issued2020
dc.department[Belirlenecek]en_US
dc.description.abstractBackground Xeroderma pigmentosum (XP) is a rare photosensitive syndrome, which is divided into eight complementation groups (XP-A to XP-G and XPV) and characterized by skin cancers diagnosed at early age. A family of seven members (age range between 5 and 47 years) with carriers of the novel nonsense mutation that causes XP-E type were included in the current study. Methods DNA was isolated from peripheral blood samples of the proband, and cancer predisposition genes were sequenced with next-generation sequencing. The demographic features and the laboratory, clinical, and histopathological findings of patients were evaluated. Results In the proband, squamous cell carcinoma was first diagnosed in the right-eye cornea at the age of 13 years and then in the left-eye cornea at the age of 15 years. Later, the patient was diagnosed with basosquamous cell carcinoma on the dorsum of the nose at the age of 18 years. After genetic analysis, a novel nonsense c.1063C>T(p.Arg355Ter) pathogenic variation that causes XP-E type was detected as homozygous in the DDB2 gene of the proband and her siblings, 11 and 5 years of age, and as heterozygous in her parents and a 22-year-old brother. Conclusion Because of the occurrence of early termination codon, truncated nonfunctional proteins or proteins with deleterious loss or gain-of-function 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.en_US
dc.identifier.doi10.1111/ijd.14957
dc.identifier.endpage996en_US
dc.identifier.issn0011-9059
dc.identifier.issn1365-4632
dc.identifier.issue8en_US
dc.identifier.pmid32530099en_US
dc.identifier.scopus2-s2.0-85086340966en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage989en_US
dc.identifier.urihttps://doi.org/10.1111/ijd.14957
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10068
dc.identifier.volume59en_US
dc.identifier.wosWOS:000539718800001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofInternational Journal Of Dermatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDamaged Dna-Bindingen_US
dc.subjectComplementation Group-Een_US
dc.subjectRepairen_US
dc.subjectComplexen_US
dc.subjectP48en_US
dc.subjectXpeen_US
dc.titleNovel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-Een_US
dc.typeArticleen_US

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