Journal article

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 Gecz, Michael Field

JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2015

Abstract

BACKGROUND: 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 'tiger-tail' banding pattern under polarising light microscopy. PATIENTS AND METHODS: 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 i..

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Grants

Awarded by NHMRC


Funding Acknowledgements

We are grateful for the cooperation of the family involved in this study. We wish to thank Donna Williams, for endocrine nursing expertise in hormonal stimulation testing; Elizabeth Nunn, Paediatric Endocrine Nurse Consultant for her excellent patient care; Dr Rani Bhatia, Paediatric Immunologist; Dr Hughie Tsang, Paediatric Ophthalmologist; The South Australian Cancer Council Genomics Facility for assistance with exome sequencing; anti-TFIIE alpha, cdk7, p62, XPD and XPB antibodies were a gift from Jean Marc Egly and Dr Arjan de Brouwer for contribution to online supplementary data. This project was supported by NH&MRC programme grant 400121. JG was supported by a NH&MRC Principal Research Fellowship 1041920. MC was supported by an MS McLeod research fellowship from the WCH foundation.