deafness autosomal recessive type 6

(redirected from DFNB6)

deafness autosomal recessive type 6

An autosomal recessive form (OMIM:600971) of sensorineural hearing loss, which is due to damage or defects of neural receptors of the inner ear, the nerve pathways to the brain, or the auditory cortex itself. 

Molecular pathology
Defects of TMIE, which encodes a transmembrane inner ear protein that may be required for normal postnatal maturation of sensory hair cells in the cochlea, cause deafness autosomal recessive type 6.
References in periodicals archive ?
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.