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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
    Gene mutationChromosome rearrangementEffectComments
    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))