Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.
SourceAudiology and Neuro-Otology, 14, 5, (2009), pp. 303-307
Article / Letter to editor
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Audiology and Neuro-Otology
SubjectDCN 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
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.
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