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GENATLAS PHENOTYPE
last update : 28-11-2009
Symbol DFNB10
Location 21q22.3
Name neurosensory deafness 10
Corresponding gene TMPRSS3
related resource Genetics hearing impairment
Main clinical features non syndromic, prelingual, stable, congenital, allelic to DFNB8
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 mutationChromosome rearrangementEffectComments
missense     mutation within the predicted cleavage site fails to undergo proteolytic cleavage and is unable to activate ENaC function
Remark(s) beta satellite sequence insertion into a coding exon is responsible of the disease (Sato 2009)