CEINGE-Biotecnologie Avanzate, Naples, Italy.
Int J Audiol. 2010 Apr;49(4):326-31. doi: 10.3109/14992021003601756.
The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for GJB2 gene mutations and for two deletions of the GJB6 gene (del GJB6 -D13S1830 and del GJB6 -D13S1854). We identified pathogenetic GJB2 mutations in 51 cases (15% of patients). No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation.
本研究旨在对 349 名感音神经性听力损失（SNHL）患者（主要来自意大利南部坎帕尼亚地区）进行 GJB2 基因突变和 GJB6 基因两个缺失（del GJB6 -D13S1830 和 del GJB6 -D13S1854）的筛查。我们在 51 例患者（占患者的 15%）中发现了致病性 GJB2 突变。未发现 GJB6 突变。我们还检查了有病因诊断的患者的听力学特征，以确定听力损失的严重程度与突变类型之间的相关性。
