{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:19:17Z","timestamp":1787894357829,"version":"build-2784847793"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:00:00Z","timestamp":1768348800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:00:00Z","timestamp":1768348800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Trichothiodystrophies (TTDs) are a group of disorders that have been characterized by sparse, brittle, and sulfur deficient hair that showed a \u201ctiger\u2010tail\u201d banding pattern. Though the majority of TTDs are inherited in an autosomal recessive pattern,\n                    <jats:italic>RNF113A<\/jats:italic>\n                    related trichothiodystrophy is X\u2010linked.\n                    <jats:italic>RNF113A<\/jats:italic>\n                    \u2010related TTD has been associated with a non\u2010photosensitive trichothiodystrophy, characterized by intellectual disability, microcephaly, growth restriction and failure, genital abnormalities, endocrine abnormalities, recurrent infections, and abnormal brain magnetic resonance imaging (MRI). To date, six individuals have been described with\n                    <jats:italic>RNF113A<\/jats:italic>\n                    \u2010related TTD. Here we describe two brothers in their 30's with a novel hemizygous variant c.635G&gt;A p.Gly212Asp in the\n                    <jats:italic>RNF113A<\/jats:italic>\n                    gene, which is not present in the tissues tested in their mother. Protein modeling suggests significant structural alteration. The brothers are the oldest known affected individuals and have features consistent with X\u2010linked trichothiodystrophy including intellectual disability, microcephaly, growth failure, dysmorphic features, severe myopia and tiger\u2010tail banding pattern. Absence of endocrinological abnormalities, recurrent infections, genital abnormalities, and abnormal MRI showed that these are not universal findings of\n                    <jats:italic>RNF113A<\/jats:italic>\n                    related trichothiodystrophy. Given that absence of the variant in the patients' mother, we presume the mother to have low level somatic mosaicism or germline mosaicism for the variant. This highlights the importance of genetic counseling for accurate recurrence risks and warranted reproductive testing for parents and female siblings of affected individuals with presumed de novo variants.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70048","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T08:34:41Z","timestamp":1768379681000},"page":"1121-1127","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel\n                    <i>RNF113A<\/i>\n                    Variant Underlying X\u2010Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4906-7428","authenticated-orcid":false,"given":"Rachel","family":"Rabin","sequence":"first","affiliation":[{"name":"Clinical Genetic Services, Department of Pediatrics NYU Grossman School of Medicine  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3061-3652","authenticated-orcid":false,"given":"Kevin T. A.","family":"Booth","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Department of Otolaryngology\u2014Head and Neck Surgery Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn E.","family":"Cowper","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Pathology Yale University  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1010-6354","authenticated-orcid":false,"given":"Keith","family":"Choate","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Genetics, and Pathology Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berish Y.","family":"Rubin","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Fordham University  Bronx New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Ekstein","sequence":"additional","affiliation":[{"name":"Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases  Brooklyn New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Pappas","sequence":"additional","affiliation":[{"name":"Clinical Genetic Services, Department of Pediatrics NYU Grossman School of Medicine  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoel","family":"Hirsch","sequence":"additional","affiliation":[{"name":"Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases  Brooklyn New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096\u20108628(19991029)86:5<>3.0.co;2\u20106"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410\u2010248"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010023\u201006045\u20100"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102014\u2010102418"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000316"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0378\u20101119(97)00108\u2010x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2022.04.008"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61302"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2025.108555"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2004.09.013"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61450"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.011"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad989"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61384"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70048","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70048","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70048","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:44:52Z","timestamp":1787892292000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,14]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ajmga.70048"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70048","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,14]]},"assertion":[{"value":"2025-09-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}