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GENATLAS PHENOTYPE

last update : 19-08-2010

Symbol	DFNB82
Location	1p13.3
Name	neurosensory deafness 82
Corresponding gene	GPSM2
Main clinical features	nonsyndromic hearing loss, moderate to profound, accompanied by vestibular dysfunction
Genetic determination	autosomal recessive
Function/system disorder	ear
Type	disease

Remark(s)

loss of GPSM2 function by premature truncation of the GPSM2 protein would lead to abnormal orientation of hair bundles and hence to aberrant hair cell transduction and hearing loss (PMID: 20602914))