A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Mark A Corbett; Tracy Dudding-Byth; Patricia A Crock; Elena Botta; Louise M Christie; Tiziana Nardo; Giuseppina Caligiuri; Lynne Hobson; Jackie Boyle; Albert Mansour; Kathryn L Friend; Jo Crawford; Graeme Jackson; Lucianne Vandeleur; Anna Hackett; Patrick Tarpey; Michael R Stratton; Gillian Turner; Jozef Gécz; Michael Field

doi:10.1136/jmedgenet-2014-102418

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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

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Mark A Corbett Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia PubMed articles Google scholar articles
Tracy Dudding-Byth Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia University of Newcastle, Newcastle, Australia PubMed articles Google scholar articles
Patricia A Crock Department of Paediatric Endocrinology and Diabetes, John Hunter Children's Hospital, University of Newcastle, Newcastle, Australia PubMed articles Google scholar articles
Elena Botta Istituto di Genetica Molecolare CNR, Pavia, Italy PubMed articles Google scholar articles
Louise M Christie Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia PubMed articles Google scholar articles
Tiziana Nardo Istituto di Genetica Molecolare CNR, Pavia, Italy PubMed articles Google scholar articles
Giuseppina Caligiuri Istituto di Genetica Molecolare CNR, Pavia, Italy PubMed articles Google scholar articles
Lynne Hobson Molecular Genetics, Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, Australia PubMed articles Google scholar articles
Jackie Boyle Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia PubMed articles Google scholar articles
Albert Mansour The Children's Hospital at Westmead, Westmead, Australia PubMed articles Google scholar articles
Kathryn L Friend Molecular Genetics, Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, Australia PubMed articles Google scholar articles
Jo Crawford Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia PubMed articles Google scholar articles
Graeme Jackson Brain Research Institute, Florey Neurosciences Institutes, West Heidelberg, Australia PubMed articles Google scholar articles
Lucianne Vandeleur Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia PubMed articles Google scholar articles
Anna Hackett Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia PubMed articles Google scholar articles
Patrick Tarpey The Wellcome Trust Sanger Institute, Hinxton, UK PubMed articles Google scholar articles
Michael R Stratton The Wellcome Trust Sanger Institute, Hinxton, UK PubMed articles Google scholar articles
Gillian Turner Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia PubMed articles Google scholar articles
Jozef Gécz Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, Australia Robinson Research Institute, The University of Adelaide, Adelaide, Australia PubMed articles Google scholar articles
Michael Field Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia PubMed articles Google scholar articles

Correspondence to Dr Michael Field, The GOLD service Hunter Genetics, University of Newcastle, NSW 2308, Australia; mike.field{at}health.nsw.gov.au Prof Jozef Gécz, Neurogenetics Research Program, School of Paediatrics and Reproductive Health, University of Adelaide (at Women's and Children's Hospital), WCH-940, 72 King William Rd, North Adelaide, 5006, Australia; jozef.gecz@adelaide.edu.au

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Corbett MA, Dudding-Byth T, Crock PA, et al

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Journal of Medical Genetics 2015;52:269-274.

Publication history

Received March 14, 2014
Revised December 12, 2014
Accepted December 16, 2014
First published January 22, 2015.

Online issue publication

April 27, 2016

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