中文摘要：

目的分析一个大前庭水管综合征家系的临床特征和SLC26A4基因检测特点。方法对一个大前庭水管综合征家系进行病史采集和听力学检测,绘制耳聋家系系谱图,提取受检者的基因组DNA,对所有家系成员进行耳聋基因芯片分析和SLC26A4基因全外显子及外显子侧翼序列的检测。结果该家系共5代合计30人（男17人,女13人）,现存26人,其中第四代7人为耳聋患者,6人均为语前感音神经性聋。1人为语后感音神经性聋,颞骨CT显示均为前庭水管扩大,第五代1人为耳聋患者,表现为前庭水管扩大合并语前感音神经性聋。在家系中共发现SLC26A4基因c.754C〉T、c.919-2A〉G、c.1264-12T〉A和c.1548_1549ins C四种已知致病突变类型。耳聋患者均为复合杂合突变。10人为SLC26A4基因携带者。结论该家系的8例耳聋患者由SLC26A4基因复合杂合突变导致前庭水管扩大,病因学分析可为患者提供预见性的临床措施,并为该家系的后代遗传咨询与婚育指导提供理论依据及科学手段,有效地防止聋儿后代出生。

英文摘要：

Objective To report clinical and SLC26A4 assessment results of a large Chinese family with large vestibular aqueduct syndrome（LVAS）. Methods The family tree was drawn based on medical history and audiological findings.Gene microarray and Sanger sequencing were performed using the genome DNA of the probands and other patients. The sequencing data were analyzed. Results There were 30 people（17 males and 13 females） in this family of 5 generations.Twenty-six were alive. There were 7 deaf patients in the fourth generation and 1 in the fifth generation. The clinical characteristics included pre-and post-lingual severe sensorineural hearing loss and enlarged vestibular aqueduct. A total of 4known types of SLC26A4 mutations（c.754C〉T, c.919-2A〉G, c.1264-12T〉A and c.1548_1549ins C） were identified. Conclusion Hearing loss in the eight patients in this family is probably caused by various biallelic mutations of the SLC26A4 gene. Etiology analysis can predict clinical therapies required in these patients and provide a basis for marriage and reproduction counseling.