deafness autosomal dominant type 6

deafness autosomal dominant type 6

A form of sensorineural hearing loss (OMIM:600965) due to damage to neural receptors of the inner ear, nerve pathways to the brain, or the auditory cortex. In DFNA6, perception of lower frequency (< 2000 Hz) sound is affected. Many patients also have tinnitus, but no vestibular symptoms (such as vertigo). Because high-frequency hearing is generally preserved, patients retain speech comprehension. DFNA6 worsens over time without progressing to profound deafness.

Molecular pathology
Defects of WFS1, which encodes a transmembrane protein that regulates Ca2+ homeostasis, cause deafness autosomal dominant type 6.
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