前庭导水管
医学
复合杂合度
听力损失
前庭系统
感音神经性聋
突变
遗传学
听力学
内耳
基因
解剖
生物
作者
Guiyang Yao,Shouxia Li,Dingli Chen,Huijun Wang,Jin Zhang,Zhixing Feng,Lili Guo,Zhiming Yang,Su-Jun Yang,Caixia Sun,Xiaofang Zhang,Duan Ma
标识
DOI:10.1016/j.ijporl.2013.01.002
摘要
Enlarged vestibular aqueduct is the most common inner ear malformation in individuals with sensorineural hearing loss. Mutations in SLC26A4 can cause non-syndromic EVA. To date, more than 170 SLC26A4 mutations have been described. The aim of the present study was to detect and report genetic causes of four unrelated Chinese families with hearing loss. We evaluated 4 families presenting bilateral enlarged vestibular aqueducts and describe the clinical and molecular characteristics of 5 patients. The SLC26A4 gene was sequenced in 23 members of these 4 Chinese families with EVA, and the patients were found to carry 4 compound heterozygous mutations, p.G197R and p.S391R, IVS7-2A>G, p.I188T and c.1746 del G, p.V659L and p.T410M, and p.T94I and p.G197R, none of which have been reported previously. These results emphasize the necessity of considering the complete DNA sequencing of the SLC26A4 gene in molecular diagnosis of deafness, especially when phenotypes such as congenital, invariable, and progressive hearing loss with EVA are present.
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