Genetic testing performed at clinic

Abstract

　 A 50-year-old woman with progressive bilateral moderate hearing loss visited our outpatient clinic. Her mother and elder and younger sisters also had hearing loss, and the elder sister died of diabetic kidney disease. Genetic testing revealed mitochondrial m.3243>G. The same mutation was also identified in her daughter, who, however, showed normal hearing. They have no signs/symptoms of diabetes mellitus so far, and are taking good care to prevent the onset of the disease. Genetic testing can be performed at clinics and should be performed in patients presenting with hearing loss.