前庭水管扩大基因突变和听力表现的相关性研究

Correlation of Gene Mutation with Hearing in the Patients with Enlarged Vestibular Aqueduct

q 目的探讨前庭水管扩大患者基因型的分布频率及临床听力损失与基因突变的关系。方法收集38例确诊前庭水管扩大患者的临床资料,进行听力检查(电测听或听觉脑干诱发电位),并检测 SLC26A4基因。结果 SLC26A4基因突变中最常见的突变为 H723R(等位基因频率26.7%)及 IVS7-2A>G(等位基因频率20.0%)。剪接位发现两种新突变,1341+2T>C 和1545-1G>A。无义突变及剪接位突变患者的听力损失较错义突变严重,差异有统计学意义(P<0.05)。结论前庭水管扩大患者的耳聋程度与基因型有关,无义突变及剪接位突变患者的听力预后较错义突变差。(中国眼耳鼻喉科杂志,2007,7:150-152)

Purpose To explore the frequency of the gene mutation appearing in the patients with enlarged vestibular aqueduct（EVA） and evaluate the correlation of the phenotype with genotype in hearing loss. Methods The data of 38 patients with EVA were collected and hearing was evaluated with pure tone audiometry （PTA） or auditory brainstem response （ABR）. The SLC26A4 gene was sequenced. Results The most common mutations are H723R （ frequency 26.7% ）, and IVS7-2A 〉 G （ frequency 20.0% ）, and two novel mutations （ 1342 ＋ 2T 〉 C and 1545 - 1G 〉 A） were found at the splice site. The hearing loss of the patients with splice site or nonsense mutation is severer than those with missense mutation. There was significant difference between the two groups（ P 〈 0.05 ）. Conclusion Hearing loss of the patients with EVA correlates to genotype. Splice site or nonsense mutation has poor prognosis in hearing compared with missense mutation.