非综合征性前庭水管扩大(EVA)是一种最常见的常染色体隐性遗传性内耳畸形，约占遗传性感音神经性聋的13.7%，与SLC26A4基因突变关系密切。SLC26A4基因双等位基因致病性突变患者均可得到影像学的验证。虽然二者关系密切，但国内外研究均发现在相当一部分EVA患者中未能找到SLC26A4基因突变或仅找到一个单等位基因突变。目前我课题组发现约30%非SLC26A4的双等位基因突变的EVA患者中存在致病性外显子拷贝数变异(CNV)，但仍然有约70%左右的该类患者不能明确病因。为了进一步明确这部分病人的致病机理，探索在EVA的发病中是否存在SLC26A4基因编码蛋白功能相关基因或其他遗传因素的协同作用，我们拟将大规模平行测序(MPS)新技术平台应用于非SLC26A4的双等位基因突变的EVA患者的基因检测，结果或有助于解决该患者群的遗传咨询困境，为EVA患者的遗传咨询和产前诊断提供可靠依据。

Non-syndromic enlarged vestibular aqueduct (EVA) is one of the most common autosomal recessive inner ear malformations and associated with SLC26A4 mutations, which account for 13.7% of patients with hereditary sensorineural hearing loss. All the patients with diallelic mutations in SLC26A4 could be identified with enlarged vestibular aqueduct in temporal bone CT scan. Although there is clear association between EVA and SLC26A4 mutations, previous clinical practice showed that in some EVA patients, SLC26A4 diallelic mutations could not be detected. Rencently, pathogenic CNVs (copy number variation, CNV) in exons were found in only about 30% EVA patients without diallelic SLC26A4 mutaitons. In this study, we applied MPS (Massively parallel sequencing) platforms to explore the existence of other EVA responsible genes and to enrich the pathogeneis of the EVA. Our result will provide theoretical basis for clinical patient management, genetic counseling, molecular diagnosis, and development of advanced therapeutic strategies.