Publication year
2014Source
Audiology and Neuro-Otology, 19, 2, (2014), pp. 106-114ISSN
Publication type
Article / Letter to editor

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Organization
Otorhinolaryngology
Human Genetics
Journal title
Audiology and Neuro-Otology
Volume
vol. 19
Issue
iss. 2
Page start
p. 106
Page end
p. 114
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 SciencesAbstract
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.
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