{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T04:49:44Z","timestamp":1790830184520,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T00:00:00Z","timestamp":1578268800000},"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":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Trichothiodystrophy (<jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>) describes a group of rare genetic disorders of <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair, characterized by sulphur\u2010deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life\u2010threatening infections.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The aim of this case report was to investigate the contribution of the gene mutation to the phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe the clinical and molecular characteristics of a family with two <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content>\u2010affected siblings who died before the age of 2\u00a0years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The causal mutated gene is the <jats:italic><jats:styled-content style=\"fixed-case\">ERCC<\/jats:styled-content>2<\/jats:italic> gene, and one of the identified mutations is the c.2164C&gt;T (p.Arg722Trp) variant. The association of this mutation with a severe <jats:styled-content style=\"fixed-case\">TTD<\/jats:styled-content> phenotype was suggested earlier in literature, and the present family adds further evidence to this hypothesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Accurate identification of the underlying genetic defect can guide the clinical follow\u2010up and counselling of patients and their families.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.16134","type":"journal-article","created":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T11:10:14Z","timestamp":1575544214000},"page":"876-879","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>ERCC<\/scp>2 mutations in two siblings with a severe trichothiodystrophy phenotype"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0522-2011","authenticated-orcid":false,"given":"G.","family":"Leemans","sequence":"first","affiliation":[{"name":"Department of Dermatology and Pathology Universitair Ziekenhuis Brussel (UZB) Vrije Universiteit Brussel (VUB) Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"De Raeve","sequence":"additional","affiliation":[{"name":"Department of Dermatology Universitair Ziekenhuis Brussel (UZB) Vrije Universiteit Brussel (VUB) Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Keymolen","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics Universitair Ziekenhuis Brussel (UZB) Vrije Universiteit Brussel (VUB) Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,6]]},"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":"10.1002\/ajmg.a.32902"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-3083.2001.00218.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700384"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09403.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2006.12.020"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000458"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.90"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2011.05.036"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp390"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(01)02280-6"},{"key":"e_1_2_4_14_1","first-page":"756","article-title":"Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity","author":"Cleaver J","year":"2009","journal-title":"Nature"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.440"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2008.01.014"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2003.09.010"},{"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","unstructured":"RichardG Autosomal recessive congenital ichthyosis. 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