deafness autosomal recessive type 10

(redirected from DFNA10)

deafness autosomal recessive type 10

A congenital autosomal recessive form (OMIM:605316) of sensorineural deafness caused by damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the auditory cortex.

Molecular pathology
Defects in TMPRSS3, which encodes a putative serine protease that acts as a permissive factor for cochlear hair cell survival, cause deafness autosomal recessive type 10.
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The EYA4 gene is known to be responsible for both nonsyndromic deafness DFNA10 and syndromic deafness with dilated cardiomyopathy [16-18].
Leijendeckers et al., "Audiometric characteristics of a Dutch DFNA10 family with mid-frequency hearing impairment," Ear and Hearing, vol.
A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. Mol Med 2002;8:607-11.
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.