{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:23Z","timestamp":1761709343059,"version":"3.37.3"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,7,8]],"date-time":"2017-07-08T00:00:00Z","timestamp":1499472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004099","name":"Ligue Contre le Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004099","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe the characterization of Xeroderma Pigmentosum variant (XPV) in a young Caucasian patient with phototype I, who exhibited a high sensitivity to sunburn and multiple cutaneous tumors at the age of 15 years. Two novel mutations in the <jats:italic>POLH<\/jats:italic> gene, which encodes the translesion DNA polymerase \u03b7, with loss of function due to two independent exon skippings, are reported to be associated as a compound heterozygous state in the patient. Western blot analysis performed on proteins from dermal fibroblasts derived from the patient and analysis of the mutation spectrum on immunoglobulin genes produced during the somatic hypermutation process in his memory B cells, show the total absence of translesion polymerase \u03b7 activity in the patient. The total lack of Pol\u03b7 activity, necessary to bypass in an error\u2010free manner UVR\u2010induced pyrimidine dimers following sun exposure, explains the early unusual clinical appearance of this patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38340","type":"journal-article","created":{"date-parts":[[2017,7,8]],"date-time":"2017-07-08T12:02:37Z","timestamp":1499515357000},"page":"2511-2516","source":"Crossref","is-referenced-by-count":8,"title":["Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the <i>POLH<\/i> gene"],"prefix":"10.1002","volume":"173","author":[{"given":"Armando","family":"De Palma","sequence":"first","affiliation":[{"name":"Department of Dermatology University hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Anne","family":"Morren","sequence":"additional","affiliation":[{"name":"Department of Dermatology University hospitals Leuven Leuven 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