Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome.

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Title:	Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome.
Author(s):	Beelen, E. van; Leijendeckers, J.M. ; Admiraal, R.J.C. ; Huygen, P.L.M. ; Hoefsloot, L.H. ; Pennings, R.J.E. ; Snik, A.F.M. ; Kunst, H.P.M.
Publication year:	2014
Source:	Audiology and Neuro-Otology, vol. 19, iss. 2, (2014), pp. 106-114
ISSN:	1420-3030
DOI:	http://dx.doi.org/10.1159/000356303
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/127677
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Subject:	Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience Radboudumc 12: Sensory disorders RIHS: Radboud Institute for Health Sciences Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences
Organization:	Otorhinolaryngology Human Genetics
Journal title:	Audiology and Neuro-Otology
Volume:	vol. 19
Issue:	iss. 2
Page start:	p. 106
Page end:	p. 114
Abstract:	We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment was congenital, bilateral and symmetric. Audiograms showed mild-to-moderate hearing impairment with a flat audiogram configuration. Higher frequencies tended to be affected more strongly. Cross-sectional analyses showed no progression, and a mean audiogram was established. Psychophysical measurements in 3 HDR patients - including speech reception in noise, loudness scaling, gap detection and difference limen for frequency - were obtained to assess hearing function in greater detail. Overall, the results of the psychophysical measurements indicated characteristics of outer hair cell loss. CT scanning showed no anomalies in 3 of the HDR patients. Although 2 patients displayed vestibular symptoms, no anomalies in the vestibular system were found by vestibulo-ocular examination. Our results are in agreement with the theory that outer hair cell malfunctioning can play a major role in HDR syndrome. (c) 2014 S. Karger AG, Basel.