Liu Yuqing, Xiong Wenyu, Lu Yu, Liang Lisong, Yang Kejie, Lan Li, Han Wei, Ye Qing, Wang Min, Zhang Yuan, Tao Fangying, Cao Zuwei, Huang Wei, Yang Xue
Guizhou Provincial People's Hospital Hearing Department Guizhou Provincial Newborn Hearing Screening and Diagnosis Center Guizhou Provincial Hearing Rehabilitation Research Center Guizhou Provincial Hearing Screening Technical Personnel Training Center，Guiyang，550000，China.
Rare Disease Research Institute of West China Hospital，Sichuan University.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2025 Jul;39(7):603-609. doi: 10.13201/j.issn.2096-7993.2025.07.002.
To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined variant analysis and clinical phenotype analysis. Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. A total of 27 pathogenic loci of were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. The most common mutation site of in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
通过联合变异分析和临床表型分析，探讨贵州大前庭导水管综合征（EVA）患者的遗传学及临床特征。72例EVA患者采用基于多重PCR的耳聋基因检测板及二代测序（NGS）进行全面的基因检测。比较不同突变亚型患者的听力学及颞骨影像学特征。72例患者共检测到27个致病位点，其中c.919-2A>G占79.2%（57/72）。发现1个新的缺失突变（c.1703_1707+6del）。65例患者中，截短突变分别占89.2%（58/65）、52.3%（34/65）、28例（43.1%）和7例（10.8%）。三组患者的前庭导水管中点直径及耳蜗不完全分隔Ⅱ型（IP-Ⅱ）发生率比较，差异均无统计学意义。此外，不同前庭导水管中点直径或合并IP-Ⅱ情况比较，差异也无统计学意义。贵州EVA患者中最常见的突变位点为c.919-2A>G，但基因型与表型的相关性仍不明确。27个突变位点的检测及新突变位点的发现提示NGS技术对贵州EVA患者具有精确的诊断意义。
