{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T21:06:26Z","timestamp":1761599186663,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T00:00:00Z","timestamp":1562544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trichothiodystrophy describes a group of recessively inherited multisystem neuroectodermal disorders that takes its name from the characteristic feature of brittle, sulfur\u2010deficient hair. We describe two siblings with trichothiodystrophy due to a novel genotype. The maternal mutation (p.Arg722Trp) is a previously described pathogenic mutation in <jats:italic>ERCC2<\/jats:italic> that has been shown to result in a severe phenotype, while the paternal mutation (c.1480\u20101G\u00a0&gt;\u00a0C) has not been previously reported. Our cases confirm the severe phenotype associated with the p.Arg722Trp mutation and expand the known genetic mutations associated with trichothiodystrophy by demonstrating a novel pathogenic mutation in <jats:italic>ERCC2<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/pde.13882","type":"journal-article","created":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T07:15:02Z","timestamp":1562570102000},"page":"668-671","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel <i>ERCC2<\/i> mutation in two siblings with trichothiodystrophy"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8572-3237","authenticated-orcid":false,"given":"Emily B.","family":"Lund","sequence":"first","affiliation":[{"name":"Section of Dermatology, Department of Medicine and Pediatrics University of Chicago Medicine Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah L.","family":"Stein","sequence":"additional","affiliation":[{"name":"Section of Dermatology, Department of Medicine and Pediatrics University of Chicago Medicine Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1980.01640360049017"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102418"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2009.10.005"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15598"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2004.09.013"},{"volume-title":"Personal communication","year":"2018","author":"Tamura D","key":"e_1_2_4_8_1"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(03)00182-5"},{"volume-title":"Madame Curie Bioscience Database [Internet]","year":"2000","author":"Stefanini M","key":"e_1_2_4_10_1"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.123"},{"issue":"438","key":"e_1_2_4_12_1","first-page":"11","article-title":"Genotype\u2010phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene","volume":"30","author":"Botta E","year":"2009","journal-title":"Hum Mutat"},{"issue":"1194","key":"e_1_2_4_13_1","first-page":"12","article-title":"Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer\u2010prone xeroderma pigmentosum vs. non\u2010cancer\u2010prone trichothiodystrophy","volume":"29","author":"Boyle J","year":"2008","journal-title":"Hum Mutat"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.24.2797"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/302063"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/14.6.1101"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694-189"},{"key":"e_1_2_4_18_1","first-page":"263","article-title":"Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy","volume":"58","author":"Takayama K","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2012.01662.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13882","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.13882","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13882","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T12:01:52Z","timestamp":1694260912000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13882"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,8]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1111\/pde.13882"],"URL":"https:\/\/doi.org\/10.1111\/pde.13882","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2019,7,8]]},"assertion":[{"value":"2019-07-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}