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He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, and dry skin. Exome sequencing showed a hemizygous, truncating variant in <jats:italic>RNF113A<\/jats:italic>, c.903_910delGCAGACCA, predicting p.(Gln302fs*12), that was inherited from his mother. Although his clinical features overlap closely with features described in the two previously reported male first cousins with <jats:italic>RNF113A<\/jats:italic> loss of function mutations, the duodenal strictures seen in this patient have not been reported. Interestingly, the patient's mother had short stature and 100% skewed X\u2010inactivation as seen in other obligate female carriers. A second male with developmental delays, microcephaly, seizures, ambiguous genitalia, and facial anomalies that included sparse and brittle hair, thin eyebrows and dry skin was recently reported to have c.897_898delTG, predicting p.(Cys299*) in <jats:italic>RNF113A<\/jats:italic> and we provide additional clinical details for this patient. This report further supports deleterious variants in <jats:italic>RNF113A<\/jats:italic> as a cause of a novel trichothiodystrophy syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61450","type":"journal-article","created":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T13:12:23Z","timestamp":1577452343000},"page":"513-520","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["A novel truncating variant in ring finger protein 113A (<i>RNF113A<\/i>) confirms the association of this gene with X\u2010linked trichothiodystrophy"],"prefix":"10.1002","volume":"182","author":[{"given":"Bryce A.","family":"Mendelsohn","sequence":"first","affiliation":[{"name":"Division of Medical Genetics University of California, San Francisco  San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1766-1094","authenticated-orcid":false,"given":"Daniah 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