Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 10-10-2018

Symbol	DFNB22
Location	16p12.2
Name	neurosensory deafness 22
Corresponding gene	OTOA
related resource	Genetics hearing impairment
Main clinical features	prelingual, moderate to severe
Genetic determination	autosomal recessive
Function/system disorder	ear
Type	disease

Gene product

Name	otoancorin

Remark(s)

hearing loss in patients with OTOA mutations is caused by a defect in inner hair cell stimulation, and the limbal attachment of the tectorial membrane plays a critical role in this process (PMID: 23129639))