两个大前庭水管综合征家系的临床及SLC26A4基因的检测分析

发布时间：2018-11-08 09:03

【摘要】：目的分析两个非综合征型前庭水管扩大耳聋家系的临床特征和SLC26A4基因检测特点。方法对两个非综合征型前庭水管扩大耳聋小家系进行临床表型分析,并对两个家系中的6例耳聋患者、6例听力正常者及1例胎儿进行SLC26A4基因全编码序列的检测。结果第一个家系共3代9人,其中仅第三代2人为耳聋患者,2例均为语后感音神经性聋,颞骨CT显示均为前庭水管扩大,1例胎儿。第二个家系共三代14人,其中4人为耳聋患者,1例为语后感音神经性聋,3例为语前感音神经性聋。颞骨CT显示均为前庭水管扩大。两个家系共发现SLC26A4基因1022delC、c.919-2AG、p.G497S、p.H723R、p.T410M五种不同的已知致病突变,耳聋患者均为双等位基因突变,1例胎儿为携带者,6例听力正常者为携带者。结论两个家系的6例耳聋患者分别由SLC26A4基因不同复合杂合突变导致前庭水管扩大,1例胎儿为携带者,加强耳聋基因的孕前及产前诊断对防止此类耳聋患儿的出生有重大意义。
[Abstract]:Objective to analyze the clinical features and SLC26A4 gene detection characteristics of two non-syndromic patients with enlarged vestibular aqueduct deafness. Methods two non-syndromic vestibular aqueduct enlarged deafness pedigrees were analyzed by phenotypic analysis. The full coding sequence of SLC26A4 gene was detected in 6 deafness patients, 6 hearing normal subjects and 1 fetus in two families. Results the first pedigree consisted of 9 persons, of whom only the third generation was 2 patients with deafness, 2 patients with postverbal sensorineural deafness, the temporal bone CT showed vestibular aqueduct enlargement, and one fetus. In the second family, there were 14 persons from three generations, including 4 deafness patients, 1 postlingual sensorineural deafness and 3 prelingual sensorineural deafness. CT of temporal bone showed vestibular aqueduct enlargement. Five known pathogenetic mutations of SLC26A4 gene 1022delCnc.919-2AGp.G497SU p.H723RN p.T410M were found in two families. The deafness patients were all diallelic mutations, one fetus was a carrier, and six hearing normal persons were carriers. Conclusion 6 cases of deafness in two families were caused by SLC26A4 gene complex heterozygosity, and one fetus was carrier. It is important to strengthen prepregnancy and prenatal diagnosis of deafness gene to prevent the birth of this kind of deafness.
【作者单位】：河北医科大学第二医院耳鼻喉二科;解放军260医院泌尿外科;
【基金】：河北省自然科学基金面上项目(NO:C2010000571) 河北省医学适用技术跟踪项目(No:GL2011-35)
【分类号】：R764.43

【参考文献】