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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-06-2010
Symbol DFNA15
Location 5q31-q32
HGNC id 2788
Name neurosensory deafness 15
Corresponding gene POU4F3
related resource Genetics hearing impairment
Main clinical features non-syndromic progressive form of adult onset hearing loss, moderate to severe, that may represent a cochleovestibular disorder (Pauw 2008)
Genetic determination autosomal dominant
Function/system disorder ear
Type disease
Gene product
Name POU domain, class 4, transcription factor 3 (POU4F3)
Gene mutationChromosome rearrangementEffectComments
various types   abnormal protein/loss of function mutant proteins showed greatly reduced capability for binding to DNA as well as transcriptionally activating reporter gene expression