title: Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.
abstract: The Allan-Herndon-Dudley syndrome is caused by mutations in the thyroid hormone transporter, Monocarboxylate transporter 8 (MCT8). It is characterized by profound intellectual disability and abnormal thyroid function. We report on a patient with Allan-Herndon-Dudley syndrome (AHDS) with profound sensorineural hearing loss which is not usually a feature of AHDS and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF).
authors: Endocrine and Metabolic Unit, Royal Adelaide Hospital, North Terrace, Adelaide, Australia.|Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.|School of Medicine, University of Adelaide, Adelaide, Australia.
authors: Lucia
authors: L
authors: Gagliardi
authors: Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.|School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
authors: Nathalie
authors: N
authors: Nataren
authors: School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.|South Australian Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
authors: Jinghua
authors: J
authors: Feng
authors: School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.|South Australian Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
authors: Andreas W
authors: AW
authors: Schreiber
authors: Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.|School of Medicine, University of Adelaide, Adelaide, Australia.|School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
authors: Christopher N
authors: CN
authors: Hahn
authors: Department of Endocrinology and Diabetes and Queensland Children's Medical Research Institute, Royal Children's Hospital, Brisbane, Australia.|School of Medicine, University of Queensland, Brisbane, Australia.
authors: Louise S
authors: LS
authors: Conwell
authors: School of Medicine, University of Queensland, Brisbane, Australia.|Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, Australia.|School of Medicine, Griffith University, Gold Coast, Australia.
authors: David
authors: D
authors: Coman
authors: Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.|School of Medicine, University of Adelaide, Adelaide, Australia.|School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.|South Australian Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.|School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, Australia.
authors: Hamish S
authors: HS
authors: Scott
mesh_terms: D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications* / Q000473:pathology; D009123:Muscle Hypotonia / Q000150:complications* / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications* / Q000473:pathology
keywords: Allan-Herndon-Dudley syndrome; MCT8; MITF; sensorineural hearing loss