Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

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Title:	Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.
Author(s):	Drunen, F.J. van; Pauw, R.J. ; Collin, R.W.J. ; Kremer, H. ; Huygen, P.L.M. ; Cremers, C.W.R.J.
Publication year:	2009
Source:	Audiology and Neuro-Otology, vol. 14, iss. 5, (2009), pp. 303-307
ISSN:	1420-3030
DOI:	https://doi.org/10.1159/000212109
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/80931
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Subject:	DCN 2: Functional Neurogenomics IGMD 3: Genomic disorders and inherited multi-system disorders NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	Otorhinolaryngology Ophthalmology Human Genetics
Journal title:	Audiology and Neuro-Otology
Volume:	vol. 14
Issue:	iss. 5
Page start:	p. 303
Page end:	p. 307
Abstract:	Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromic DFNA15. This is the second DFNA15 family worldwide to have a novel L289F mutation in POU4F3. Vestibular involvement appeared to be present in 2 affected individuals according to their medical history. Vestibular examination results in an extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia. DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment.