{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:39:44Z","timestamp":1761709184181},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T00:00:00Z","timestamp":1467244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Photoderm Photoimm Photomed"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Most patients with xeroderma pigmentosum complementation group D (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010D) from Western countries suffer from neurological symptoms, whereas Japanese patients display only skin manifestations without neurological symptoms. We have previously suggested that these differences in clinical manifestations in <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010D patients are attributed partly to a predominant mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ERCC<\/jats:styled-content>2<\/jats:italic>, and the allele frequency of S541R is highest in Japan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We diagnosed a child with mild case of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010D by the evaluation of <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair activity and whole\u2010genome sequencing, and followed her ten years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Skin cancer, mental retardation, and neurological symptoms were not observed. Her minimal erythema dose was 41 mJ\/cm<jats:sup>2<\/jats:sup>, which was slightly lower than that of healthy Japanese volunteers. The patient's cells showed sixfold hypersensitivity to UV in comparison with normal cells. Post\u2010UV unscheduled DNA synthesis was 20.4%, and post\u2010UV recovery of RNA synthesis was 58% of non\u2010irradiated samples, which was lower than that of normal fibroblasts. Genome sequence analysis indicated that the patient harbored a compound heterozygous mutation of c.1621A&gt;C and c.591_594del, resulting in p.S541R and p.Y197* in <jats:italic>ERCC2<\/jats:italic>: then, patient was diagnosed with XP\u2010D. Y197* has not been described before.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Her mild skin manifestations might be attributed to the mutational site on her genome and daily strict sun protection. c.1621A&gt;C might be a founder mutation of <jats:italic><jats:styled-content style=\"fixed-case\">ERCC<\/jats:styled-content>2<\/jats:italic> among Japanese <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010D patients, as it was identified most frequently in Japanese <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010D patients and it has not been found elsewhere outside Japan.<\/jats:p><\/jats:sec>","DOI":"10.1111\/phpp.12240","type":"journal-article","created":{"date-parts":[[2016,3,19]],"date-time":"2016-03-19T12:41:54Z","timestamp":1458391314000},"page":"174-180","source":"Crossref","is-referenced-by-count":9,"title":["A 10\u2010year follow\u2010up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole\u2010genome sequencing"],"prefix":"10.1111","volume":"32","author":[{"given":"Ryusuke","family":"Ono","sequence":"first","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taro","family":"Masaki","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franklin","family":"Mayca Pozo","sequence":"additional","affiliation":[{"name":"Biosignal Research Center, Organization of Advanced Science and Technology Kobe University Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Nakazawa","sequence":"additional","affiliation":[{"name":"Nagasaki University Research Centre for Genomic Instability and Carcinogenesis Nagasaki University Nagasaki Japan"},{"name":"Department of Genetics Research Institute of Environmental Medicine Nagoya University Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid M. A.","family":"Swagemakers","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus University Medical Centre Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nakano","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Sakai","sequence":"additional","affiliation":[{"name":"Biosignal Research Center, Organization of Advanced Science and Technology Kobe University Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumio","family":"Kanda","sequence":"additional","affiliation":[{"name":"Division of Neurology Kobe University Graduate School of Medicine Kobe Japan"},{"name":"Integrated Clinical Education Center Kobe University Hospital Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoo","family":"Ogi","sequence":"additional","affiliation":[{"name":"Nagasaki University Research Centre for Genomic Instability and Carcinogenesis Nagasaki University Nagasaki Japan"},{"name":"Department of Genetics Research Institute of Environmental Medicine Nagoya University Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"van der Spek","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus University Medical Centre Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaoru","family":"Sugasawa","sequence":"additional","affiliation":[{"name":"Biosignal Research Center, Organization of Advanced Science and Technology Kobe University Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chikako","family":"Nishigori","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2006.06.010"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0781.2001.017002047.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2008.07.001"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.14"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700759"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2014.194"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2010.01.015"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1186802"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/2043-9113-2-19"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10465"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.16.8658"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1988.01670020074021"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000247901"}],"container-title":["Photodermatology, Photoimmunology &amp; Photomedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fphpp.12240","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/phpp.12240","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T18:24:45Z","timestamp":1695493485000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/phpp.12240"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,30]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1111\/phpp.12240"],"URL":"https:\/\/doi.org\/10.1111\/phpp.12240","archive":["Portico"],"relation":{},"ISSN":["0905-4383","1600-0781"],"issn-type":[{"value":"0905-4383","type":"print"},{"value":"1600-0781","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,30]]}}}