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GENATLAS PHENOTYPE

last update : 24-06-2013

Symbol	DFNA22
Location	6q14.1
HGNC id	13269
Name	neurosensory deafness 22
Corresponding gene	MYO6
Main clinical features	non syndromic, post lingual, onset during childhood (8-10 years), slowly progressive moderate to severe hearing loss
Genetic determination	autosomal dominant
Function/system disorder	ear
Type	disease

Gene product

Name

myosin 6

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/gain of function	C442Y mutant has a significant increase (approximately 10-fold) in the steady state ATPase rate in the absence of actin relative to normal myosin VI

Remark(s)

. missense mutation c.3610C > T (p.R1204W) results in a flat configured audiogram with a mild hearing loss, which becomes severe to profound and gently to steeply downsloping later in life, mimicing presbyacusis (PMID: 23340379))