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GENATLAS PHENOTYPE
last update : 30/03/2006
Symbol DFNB37
Location 6q14.1
Name neurosensory deafness 37
Corresponding gene MYO6
Main clinical features deafness congenital, profound, Pakistani family
Genetic determination autosomal recessive
Function/system disorder ear
Type disease
Mechanism(s)
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 MYO6
Remark(s)