| Symbol
| DFNA3
|
| Location
| 13q12.11
|
| HGNC id
| 2801
|
| Name
|
neurosensory deafness 3 |
| Other name(s)
|
neurosensory nonsyndromic dominant deafness 1 |
| Corresponding gene
|
GJB2
, GJB6
|
| related resource
| Genetics hearing impairment
|
| Other symbol(s)
| NSRD1
|
| Main clinical features
|
non syndromic, prelingual, slowly progressive (GJB2 defect), French kindred, same locus as DFNB1 |
| Genetic determination
| autosomal dominant |
| Related entries
| . including sudden sensorineural hearing loss
|
| Function/system disorder
| ear |
| Type
| disease
|
| Name
| gap junction communication channel component GJB2 or GJB6
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| other
|
|
| R75Q substitution
| | unknown
|
|
| T55N, located at the apex of the first extracellular loop, a region suggested to play a role in protein targeting
| |
| Remark(s)
|
. mutant protein (p.M163L) has defective trafficking to the plasma membrane and is associated with increased cell death (PMID: 18472371))
Mutation R184Q of GJB2 has a dominant -negative effect on GJB2 and GJB6 (PMID: 20442751)) |