Molecular basis of hearing loss associated with enlarged vestibular aqueduct

• 作者: Wu Hao Yang Tao Yu Xiaoyu
• 来源期刊: 生物组学研究杂志（英文）
• 关键词: enlarged vestibular aqueduct gene mutation hearing loss pathogenesis SLC26A4 FOXI1 KCNJ10
• 年，卷（期）: 2019,（3）
• 所属期刊栏目: Review Article
• 页码范围: 121-124
• 页数: 4页
• 语种: 中文
• DOI: 10.1097/JBR.0000000000000032

摘要

Enlarged vestibular aqueduct (EVA) is a radiologic malformation of the inner ear most commonly seen in children with sensorineural hearing loss. Most cases of EVA with hearing loss are caused by biallelic mutations of SLC26A4. In this review, we discuss the potential mechanisms underlying the pathogenesis of hearing loss with EVA due to malfunction of SLC26A4, the detection rates of SLC26A4 mutations in EVA patients from different populations, and the role of other genetic factors (eg, mutations in FOXI1 and KCNJ10) as etiologic contributors to EVA. Elucidating the molecular etiology of EVA-associated hearing loss may facilitate genetic counseling and lead to potential therapeutic strategies.