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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.

Abstract

OBJECTIVE:

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.

DESIGN:

Case report.

STUDY SAMPLE:

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.

RESULTS:

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.

CONCLUSIONS:

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.

[PubMed - indexed for MEDLINE]
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