| 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
|
| Name
| POU domain, class 4, transcription factor 3 (POU4F3)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| 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
| |