Department of Sensory Systems, Policlinico Umberto I Hospital, Sapienza University, Rome, Italy.
Int J Audiol. 2012 Dec;51(12):870-9. doi: 10.3109/14992027.2012.712721. Epub 2012 Sep 27.
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.
本研究旨在描述携带线粒体 12S rRNA 基因 T961G 突变的一个家系的听力学和影像学特征及其他次要方面。
病例报告。
一个家系的 6 名成员接受了纯音测听、声导抗测试、听性脑干反应（ABR）和耳声发射（OAE）等听力学评估。影像学评估采用东芝 16 通道 Aquilon Spirale 进行颞骨 CT 扫描。还进行了神经精神评估。
3 名参与者被诊断为耳蜗来源的重度感音神经性听力损失和 CT 扫描可见的耳蜗畸形。1 名参与者为轻度混合性听力损失，无耳蜗畸形。2 名参与者的听力学和影像学检查结果正常。
我们认为，我们的研究可以为罕见突变的临床发现提供有价值的见解，目前文献中很少有关于该突变的报道。
