{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T04:20:18Z","timestamp":1787286018655,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T00:00:00Z","timestamp":1600214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder caused by defects in the genes involved in repairing DNA damaged by ultraviolet radiation. These defects lead to a propensity to develop skin cancer at early ages as a hallmark, and progressive neurological degeneration can be observed in around 25% of patients. Eight clinically heterogeneous groups have been identified so far (XPA to XPG and XPV). Xeroderma pigmentosum variant type (XPV) is associated with pathogenic variants in\n POLH<\/jats:italic>\n on chromosome 6, and no neurological dysfunction has been seen in these cases. However, on the same chromosome, it has been shown that\n TREM2<\/jats:italic>\n is associated with some types of dementia, particularly in patients with a behavioral variant frontotemporal phenotype.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Gene mutational analysis was performed by whole\u2010exome sequencing.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We report a case of a Caucasian woman with XP that developed behavioral and cognitive impairment at age 37. Whole\u2010exome sequencing identified novel homozygous variants in\n POLH<\/jats:italic>\n c.638C>G (p.Ser213*) and\n TREM2<\/jats:italic>\n c.154C>T (p.Arg52Cys), classifying the patient as XPV and suggesting that her frontotemporal dementia phenotype could be related to the variant in\n TREM2<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n This paper describes a rare case of a patient with two novel variants in the same chromosome associated with XPV and early\u2010onset dementia.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.1491","type":"journal-article","created":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T16:50:51Z","timestamp":1600275051000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel variants in\n POLH<\/i>\n and\n TREM2<\/i>\n genes associated with a complex phenotype of xeroderma pigmentosum variant type and early\u2010onset dementia"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0270-5800","authenticated-orcid":false,"given":"Izadora Fonseca Zaiden","family":"Soares","sequence":"first","affiliation":[{"name":"Department of Neurosciences Centro Universit\u00e1rio Sa\u00fade ABC Santo Andre S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise Maria","family":"Christofolini","sequence":"additional","affiliation":[{"name":"Department of Collective health Centro Universit\u00e1rio Sa\u00fade ABC Santo Andre S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lis Gomes","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Centro Universit\u00e1rio Sa\u00fade ABC Santo Andre S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Feder","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Centro Universit\u00e1rio Sa\u00fade ABC Santo Andre S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5485-7937","authenticated-orcid":false,"given":"Alzira Alves","family":"de Siqueira Carvalho","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Centro Universit\u00e1rio Sa\u00fade ABC Santo Andre S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/\u200bawn126"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/b:cemn.00000\u200b12721.08168.ee"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.02247\u200b3899"},{"key":"e_1_2_9_5_1","first-page":"1529","volume-title":"Textbook of aging skin","author":"Chedraoui 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