title: Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.
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.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University, Nijmegen, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: van Beelen
authors.forename: J M
authors.initials: JM
authors.lastname: Leijendeckers
authors.forename: R J C
authors.initials: RJ
authors.lastname: Admiraal
authors.forename: P L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: L H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: R J E
authors.initials: RJ
authors.lastname: Pennings
authors.forename: A F M
authors.initials: AF
authors.lastname: Snik
authors.forename: H P M
authors.initials: HP
authors.lastname: Kunst
mesh_terms: D001301:Audiometry, Pure-Tone; D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D009401:Nephrosis / Q000235:genetics* / Q000503:physiopathology; D009426:Netherlands; D010375:Pedigree; D010641:Phenotype; D013067:Speech Perception / Q000502:physiology; D013577:Syndrome; D014724:Vestibular Function Tests
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human