Audiological and radiological characteristics of a family with T961G mitochondrial mutation

Rosaria Turchetta, Filippo Mazzei, Tiziana Celani, Maria Gloria Cammeresi, Maria Patrizia Orlando, Giancarlo Altissimi, Chiara De Vincentiis, Ferdinando D'Ambrosio, Daniela Messineo, Alessandro Ferraris, Giancarlo Cianfrone

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)870-879
Number of pages10
JournalInternational Journal of Audiology
Volume51
Issue number12
DOIs
Publication statusPublished - Dec 2012

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Keywords

  • Mitochondrial mutation
  • Sensorineural hearing loss
  • Vestibular aqueduct enlargement

ASJC Scopus subject areas

  • Speech and Hearing
  • Language and Linguistics
  • Linguistics and Language

Cite this

Turchetta, R., Mazzei, F., Celani, T., Cammeresi, M. G., Orlando, M. P., Altissimi, G., De Vincentiis, C., D'Ambrosio, F., Messineo, D., Ferraris, A., & Cianfrone, G. (2012). Audiological and radiological characteristics of a family with T961G mitochondrial mutation. International Journal of Audiology, 51(12), 870-879. https://doi.org/10.3109/14992027.2012.712721