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GENATLAS PHENOTYPE |
last update : 18-01-2012 |
Symbol | DFNB8 |
Location | 21q22.3 |
Name | neurosensory deafness 8 |
Corresponding gene | TMPRSS3 |
related resource | Genetics hearing impairment |
Main clinical features | non-syndromic, postlingual, profound, progressive, allelic to DFNB10 |
Genetic determination | autosomal recessive |
Prevalence | 1.7 p100 of all DFNB (PMID: 21117948) |
Function/system disorder | ear |
Type | disease |
Gene product |
Name | transmembrane protease serine 3 (TMPRSS3) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| mutation within the predicted cleavage site fails to undergo proteolytic cleavage and is unable to activate ENaC
| |
Remark(s) |