Name

USH2A Gene

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

MCDR4 Gene

macular dystrophy, retinal, 4 (North Carolina type with progressive sensorineural hearing loss)

CIHL Gene

hearing loss, cisplatin-induced, susceptibility to

ARHI1 Gene

Age-related hearing impairment 1

ARHI2 Gene

Age-related hearing impairment 2