人工耳蜗植入患者GJB2基因突变检测及耳蜗植入疗效分析

目的 探讨接受人工耳蜗植入(CI)患者的缝隙连接蛋白beta 2(GJB2)基因突变情况,并评价GJB2基因突变患者耳蜗植入的效果.方法 对接受CI的253例患者以及作为对照的301例正常听力儿童进行GJB2基因突变筛查,并比较两组间病理性基因突变检出率差异的统计学意义;同时对7岁以下GJB2基因突变组和GJB2基因突变筛查阴性的对照组进行耳蜗植入疗效评价.疗效评价内容包括声场人工耳蜗助听听阈、言语识别正确率、意义听觉整合量表(MAIS)测试、听觉行为分级标准(CAP)和言语可懂度分级标准(SIR),比较GJB2基因突变组与对照组耳蜗植入疗效差异的统计学意义.结果 253例耳蜗植入患者中检测出67例GJB2基因突变,检出率26.5%,明显高于对照组(P<0.05).发现1例新突变GJB2 235delC/598G>A.GJB2基因突变患者CI术后疗效满意,且耳蜗植入后各项疗效指标与对照组差异无统计学意义(P>0.05).结论 GJB2基因突变是接受CI人群中耳聋的主要致病因素之一;7岁以下GJB2基因突变耳聋患者,人工耳蜗植入术后听觉及语言康复效果满意.

Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients

Objective To investigate the Gap junction protein beta 2 (GJB2) gene mutation in cochlear implantation (CI) recipients and the treatment outcome of CI in the CI recipients with GJB2 gene mutation. Methods Peripheral blood samples were collected from 253 CI recipients with autosomal recessive non-syndromic hearing impairment (NSHI), 174 males and 79 females, aged (8±9) (112 months -52.7 years), and 301 children with normal hearing level as controls. PCR was used to detect the GJB2 mutations. The auditory threshold with CI and speech recognition of the CI recipients with GJB2 mutation were compared with those of the CI recipients without GJB2 mutation (control group). Questionnaire survey, with meaningful auditory integration scale (MAIS), categories of auditory performance (CAP), and speech intelligibility rating (SIR), was used for young infants. Results Sixty-seven of the 253 CI recipients (26. 5%) were found to have GJB2 mutations. One novel mutation, GJB2 235delC/598G > A, was identified. The detection rates of GJB2 mutations in the CI recipients were significantly higher than those among the controls ( all P <0. 05). The postoperative outcomes of CI in both the GJB2 gene mutation positive and negative groups were very good, however, without significant differences among these 2 groups ( all P > 0. 05). Conclusion GJB2 gene mutation is one of the major causes for CI recipients with autosomal recessive NSHI. The treatment outcomes of CI recipients with GJB2 gene mutations under 7 years old are satisfying.