单侧大前庭水管综合征SLC26A4基因的突变分析

Prevalence of SLC26A4 mutations in deafness with unilateral enlarged vestibular aqueduct syndrome

目的分析SLC26A4基因突变在中国单侧大前庭水管综合征耳聋患者中的分布,探讨单侧大前庭水管综合征的致病因素。方法回顾性分析行SLC26A4基因全序列分析的17例经颞骨CT和听力学检查确诊为单侧大前庭水管综合征的耳聋患者,基因突变检测分布;447例双侧大前庭水管综合征患者的SLC26A4基因突变分布情况作为对照组。结果单侧大前庭水管综合征患者中SLC26A4基因阳性检出率29.41%(5/17),明显低于双侧大前庭水管综合征患者的检出率95.97%(429/447)(P<0.01)。结论单侧前庭水管扩大的发病可能是与SLC26A4以外的其他因素尚存在联系。

Objective To determine the prevalence of SLC26A4 mutation in the patients with unilateral enlarged vestibular aqueduct syndrome, and explore the risk factors of the unilateral enlarged vestibular aqueduct syndrome. Methods All patients with hearing test and temporal bone CT scan received the genetic tests in coding region of SLC26A4, and the pa- tients were divided into two groups according to the temporal bone CT： unilateral and bilateral enlarged vestibular aqueduct. Results The positive rate of SLC26A4 in patients with unilateral enlarged vestibular aqueduct （29.41%） was significantly lower than that in patients with bilateral large vestibular aqueduct （95.97%）. （P〈0.01） Conclusion Unilateral EVA is not as- sociated with SLC26A4 and may have a different etiology.