Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

Lucia Gagliardi; Nathalie Nataren; Jinghua Feng; Andreas W Schreiber; Christopher N Hahn; Louise S Conwell; David Coman; Hamish S Scott

doi:10.1002/ajmg.a.37075

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

Am J Med Genet A. 2015 Aug;167A(8):1872-6. doi: 10.1002/ajmg.a.37075. Epub 2015 Apr 6.

Authors

Lucia Gagliardi^{1

2

3}, Nathalie Nataren^{2

4}, Jinghua Feng^{4

5}, Andreas W Schreiber^{4

5}, Christopher N Hahn^{2

3

4}, Louise S Conwell^{6

7}, David Coman^{7

8

9}, Hamish S Scott^{2

3

4

5

10}

Affiliations

¹ Endocrine and Metabolic Unit, Royal Adelaide Hospital, North Terrace, Adelaide, Australia.
² Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
³ School of Medicine, University of Adelaide, Adelaide, Australia.
⁴ School of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
⁵ South Australian Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
⁶ Department of Endocrinology and Diabetes and Queensland Children's Medical Research Institute, Royal Children's Hospital, Brisbane, Australia.
⁷ School of Medicine, University of Queensland, Brisbane, Australia.
⁸ Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, Australia.
⁹ School of Medicine, Griffith University, Gold Coast, Australia.
¹⁰ School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, Australia.

PMID: 25850411
DOI: 10.1002/ajmg.a.37075

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).

Keywords: Allan-Herndon-Dudley syndrome; MCT8; MITF; sensorineural hearing loss.

MeSH terms

Hearing Loss, Sensorineural / complications*
Hearing Loss, Sensorineural / pathology
Humans
Magnetic Resonance Imaging
Male
Mental Retardation, X-Linked / complications*
Mental Retardation, X-Linked / pathology
Muscle Hypotonia / complications*
Muscle Hypotonia / pathology
Muscular Atrophy / complications*
Muscular Atrophy / pathology

Supplementary concepts

Allan-Herndon-Dudley syndrome