{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:11:58Z","timestamp":1761718318327},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,7,2]],"date-time":"2014-07-02T00:00:00Z","timestamp":1404259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trichothiodystrophy group <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>) is one of the three types of photosensitive <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content> and is a very rare genodermatosis with deficient post\u2010ultraviolet (<jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>) <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair. We herein describe the first <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese case with a novel mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">GTF<\/jats:styled-content>2<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>5<\/jats:italic> gene responsible for <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>. A 5\u2010year\u2010old male, born as a collodion baby from healthy non\u2010consanguineous parents, exhibited sun sensitivity, brittle hair, ichthyosis, cataracts and mental\/physical retardation. He demonstrated neither neurological abnormalities nor pigmentary changes following sun exposure. The patient's primary fibroblasts were hypersensitive to killing by <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content> (<jats:italic>D<\/jats:italic><jats:sub>0<\/jats:sub>\u00a0=\u00a01.5\u00a0J\/m<jats:sup>2<\/jats:sup>), and the post\u2010<jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content> unscheduled <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> synthesis was 13% of normal. A host cell reactivation complementation analysis showed a decreased <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> capacity without recovery after transfecting any xeroderma pigmentosum genes. We identified a novel homozygous mutation (c.166G&gt;T) in the coding region of the <jats:italic><jats:styled-content style=\"fixed-case\">GTF<\/jats:styled-content>2<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>5<\/jats:italic> gene that resulted in a predicted amino acid change: p.<jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>55<jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>. Thus far, only one <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese case of <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content> with a mutation of the <jats:italic><jats:styled-content style=\"fixed-case\">XPD<\/jats:styled-content><\/jats:italic> gene had been reported. The present case is the first of <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> and the second case of <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content> in Japan, suggesting that it is necessary to differentiate <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content> from other photosensitive disorders, although the incidence of <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content> is very low in Japan compared to that observed in <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>estern countries.<\/jats:p>","DOI":"10.1111\/1346-8138.12549","type":"journal-article","created":{"date-parts":[[2014,7,2]],"date-time":"2014-07-02T10:14:39Z","timestamp":1404296079000},"page":"705-708","source":"Crossref","is-referenced-by-count":13,"title":["Trichothiodystrophy group <scp>A<\/scp>: A first <scp>J<\/scp>apanese patient with a novel homozygous nonsense mutation in the <i><scp>GTF<\/scp>2<scp>H<\/scp>5<\/i> gene"],"prefix":"10.1111","volume":"41","author":[{"given":"Shinichi","family":"Moriwaki","sequence":"first","affiliation":[{"name":"Department of Dermatology Osaka Medical College Osaka"},{"name":"Department of Photomedical Genomics Basic Medical Photonics Laboratory Medical Photonics Research Center Hamamatsu University School of Medicine Hamamatsu"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Saruwatari","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamotsu","family":"Kanzaki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuro","family":"Kanekura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinsei","family":"Minoshima","sequence":"additional","affiliation":[{"name":"Department of Photomedical Genomics Basic Medical Photonics Laboratory Medical Photonics Research Center Hamamatsu University School of Medicine Hamamatsu"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,7,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2001.114294"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1387"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1385"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/428141"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2008.01.014"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.123"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2012.01446.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000253"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.126839"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp390"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12549","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12549","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T08:27:30Z","timestamp":1695544050000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,2]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1111\/1346-8138.12549"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12549","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,2]]}}}