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Int J Audiol. 2012 Dec;51(12):870-9. doi: 10.3109/14992027.2012.712721. Epub 2012 Sep 27.

Audiological and radiological characteristics of a family with T961G mitochondrial mutation.

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  • 1Department of Sensory Systems, Policlinico Umberto I Hospital, Sapienza University, Rome, Italy.



The aim of this study was to describe audiological and radiological characteristics, and other secondary aspects, in a family carrying a T961G mutation in the 12S rRNA mitochondrial gene.


Case report.


Six members of a family participated in an audiological evaluation that included pure-tone audiometry, immittance tests, auditory brainstem responses (ABR), and otoacoustic emissions (OAE). The radiological evaluation was conducted through temporal bone CT scans using a Toshiba 16 channels Aquilon Spirale. Neuropsychiatric evaluation was also administered.


Three participants were diagnosed with severe sensorineural hearing loss of cochlear origin and cochlear malformations visible in CT scans. One participant had a mild mixed-hearing loss and no cochlear malformations. Two participants had normal audiological and radiological findings.


We believe our study can provide helpful insight on the clinical findings of a rare mutation, of which few data have been presented in literature.

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