{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T08:57:46Z","timestamp":1762505866243},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,15]],"date-time":"2012-03-15T00:00:00Z","timestamp":1331769600000},"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":[[2012,4]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> We describe an unusual xeroderma pigmentosum (XP) patient with a mutation in XP complementation group G, representing only the third reported Japanese XP\u2010G patient. A 40\u2010year\u2010old men (XP3HM), born from consanguineous parents experienced sun sensitivity and pigmentary changes of sun\u2010exposed skin since childhood. He developed a squamous cell carcinoma on his lower lip at the age of 40. He has neither neurological abnormalities nor Cockayne syndrome. The primary fibroblasts of the patient were hypersensitive to killing by UV (<jats:italic>D<\/jats:italic><jats:sub>0\u2003<\/jats:sub>=<jats:sub>\u2003<\/jats:sub>0.6\u2003J\/m<jats:sup>2<\/jats:sup>) and the post\u2010UV unscheduled DNA synthesis was 8% of normal. Host cell reactivation complementation analysis implicated XP complementation group G. We identified a novel homozygous mutation (c.194T&gt;C) in a conserved portion of the <jats:italic>XPG(ERCC5)<\/jats:italic> gene, resulting in a predicted amino acid change; p.L65P. We confirmed that this genetic change reduced DNA repair thus linking this mutation to increased skin cancer.<\/jats:p>","DOI":"10.1111\/j.1600-0625.2012.01446.x","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T03:07:04Z","timestamp":1326769624000},"page":"304-307","source":"Crossref","is-referenced-by-count":30,"title":["Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological 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