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GENATLAS PHENOTYPE

last update : 22-08-2011

Symbol	DFNA2
Location	1p34
HGNC id	2792
Name	neurosensory deafness 2
Corresponding gene	KCNQ4
related resource	Genetics hearing impairment
Other symbol(s)	HFHL1
Main clinical features	non syndromic, postlingual, progressive deafness develops slowly over decades, is post-lingual, and is presented as a symmetrical impairment (PMID: 20966080)) delayed onset, high frequency hearing loss 1 (one Indonesian, one American, three European families) may be acting in a digenic mode of inheritance with DFNA12, leading to a severe phenotype progressive hearing loss associated with aging
Genetic determination	autosomal dominant
Function/system disorder	ear
Type	disease

Gene product

Name	potassium voltage gated channel, mutations clustering in the pore region

Remark(s)

progressive hearing loss associated with ageing may result from an increasing mutational load expansion toward the apex in inner hair cells and spiral ganglion neurons