{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T12:50:42Z","timestamp":1789995042629,"version":"4.0.1"},"reference-count":20,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2014,12,16]]},"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Trichothiodystrophy (TTD) is a group of rare autosomal recessive disorders that variably affect a wide range of organs derived from the neuroectoderm. The key diagnostic feature is sparse, brittle, sulfur deficient hair that has a \u2018tiger-tail\u2019 banding pattern under polarising light microscopy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Patients and methods<\/jats:title>\n                  <jats:p>We describe two male cousins affected by TTD associated with microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis. Obligate female carriers showed 100% skewed X-chromosome inactivation. Linkage analysis and Sanger sequencing of 737 X-chromosome exons and whole exome sequencing was used to find the responsible gene and mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Linkage analysis localised the disease allele to a 7.75\u2005Mb interval from Xq23\u2013q25. We identified a nonsense mutation in the highly conserved <jats:italic>RNF113A<\/jats:italic> gene (c.901 C&gt;T, p.Q301*). The mutation segregated with the disease in the family and was not observed in over 100\u2005000 control X chromosomes. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The association of <jats:italic>RNF113A<\/jats:italic> mutation with non-photosensitive TTD identifies a new locus for these disorders on the X chromosome. The extended phenotype within this family includes panhypopituitarism, cutis marmorata and congenital short oesophagus.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2014-102418","type":"journal-article","created":{"date-parts":[[2015,1,22]],"date-time":"2015-01-22T23:55:38Z","timestamp":1421970938000},"page":"269-274","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":57,"title":["A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A"],"prefix":"10.1136","volume":"52","author":[{"given":"Mark A","family":"Corbett","sequence":"first","affiliation":[{"name":"Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Dudding-Byth","sequence":"additional","affiliation":[{"name":"Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia"},{"name":"University of Newcastle, Newcastle, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia A","family":"Crock","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes, John Hunter Children's Hospital, University of Newcastle, Newcastle, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Botta","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Molecolare CNR, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise M","family":"Christie","sequence":"additional","affiliation":[{"name":"Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Nardo","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Molecolare CNR, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Caligiuri","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Molecolare CNR, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne","family":"Hobson","sequence":"additional","affiliation":[{"name":"Molecular Genetics, Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jackie","family":"Boyle","sequence":"additional","affiliation":[{"name":"Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Mansour","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead, Westmead, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn L","family":"Friend","sequence":"additional","affiliation":[{"name":"Molecular Genetics, Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo","family":"Crawford","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Jackson","sequence":"additional","affiliation":[{"name":"Brain Research Institute, Florey Neurosciences Institutes, West Heidelberg, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucianne","family":"Vandeleur","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, 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