Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.
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.
van Drunen
F J Wendy
FJ
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, NL-6500 HB Nijmegen, The Netherlands.
Pauw
Robert J
RJ
Collin
Rob W J
RW
Kremer
Hannie
H
Huygen
Patrick L M
PL
Cremers
Cor W R J
CW
D000293:Adolescent; D000328:Adult; D000368:Aged; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D017120:Nystagmus, Optokinetic; D010375:Pedigree; D017354:Point Mutation; D011698:Pursuit, Smooth; D012021:Reflex, Abnormal; D012027:Reflex, Vestibulo-Ocular; D012438:Saccades; D050821:Transcription Factor Brn-3C / Q000235:genetics*; D015837:Vestibular Diseases / Q000235:genetics* / Q000503:physiopathology*
D018398:Homeodomain Proteins; C111223:POU4F3 protein, human; D050821:Transcription Factor Brn-3C