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

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.