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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)
Gene mutationChromosome rearrangementEffectComments
missense     mutation within the predicted cleavage site fails to undergo proteolytic cleavage and is unable to activate ENaC