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Hearing evaluation in two sisters with a T8993G point mutation of mitochondrial DNA
Yuki Sakai1, Kimitaka Kaga, Kazuo Kodama
1Department of Otolaryngology, School of Medicine, University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, 113-8655 Tokyo, Japan. xxxsakai@livedoor.com
Abstract:
We report on two sisters with a T8993G point mutation of mitochondrial DNA, and their hearing evaluation. Considering auditory function, hearing in the elder sister remains almost normal. However, in the younger sister, the auditory brainstem response (ABR) threshold has fluctuated remarkably during a 3-year follow-up. The threshold changes of ABR in the younger sister suggest that her hearing problems may well be caused by both cochlear nerves and retrocochlear lesions. Our experience is clinically important because there have been only a few reports on hearing evaluation in patients with a T8993G point mutation of mitochondrial DNA.
