International journal of audiology · 2012
Audiological and radiological characteristics of a family with T961G mitochondrial mutation.
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Turchetta Rosaria, Mazzei Filippo, Celani Tiziana, Cammeresi Maria Gloria, Orlando Maria Patrizia, Altissimi Giancarlo, de Vincentiis Chiara, D'Ambrosio Ferdinando, Messineo Daniela, Ferraris Alessandro, Cianfrone Giancarlo
Аннотация
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.
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.
Предметные рубрики MeSH
Abnormalities, MultipleAdultAudiometry, Pure-ToneAuditory PerceptionAuditory ThresholdChildChild, PreschoolCochleaEvoked Potentials, Auditory, Brain StemFemaleGenetic Predisposition to DiseaseGenetic TestingHearingHearing Loss, Mixed Conductive-SensorineuralHearing Loss, SensorineuralHeredityHumansInfantInfant, NewbornMaleMiddle AgedMutationNeuropsychological TestsOtoacoustic Emissions, SpontaneousPedigreePhenotypePredictive Value of TestsRNARNA, MitochondrialRNA, RibosomalTomography, Spiral ComputedVestibular Aqueduct