GJB2基因突变与遗传性非综合征性听力损失人工耳蜗植入效果的相关性
Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss.
作者信息
Karamert Recep, Bayazit Yildirim A, Altinyay Senay, Yılmaz Akın, Menevse Adnan, Gokdogan Ozan, Gokdogan Cagil, Ant Ayca
机构信息
Department of Otolaryngology, Gazi University Faculty of Medicine,06510 Besevler, Cankaya, Ankara, Turkey.
出版信息
Int J Pediatr Otorhinolaryngol. 2011 Dec;75(12):1572-5. doi: 10.1016/j.ijporl.2011.09.010. Epub 2011 Oct 11.
OBJECTIVE
To analyze the association of GJB2 gene mutations with cochlear implant performance in children.
METHODS
Sixty-five consecutive children who underwent cochlear implantation due to congenital profound senseurineural hearing between 2006 and 2008 were included in the study. In children, GJB2 gene mutation analysis was performed. Their auditory performance was assessed using MAIS, MUSS and LittlEARS tests.
RESULTS
Twenty-two of sixty-five patients GJB2 mutations, and 35delG was the most frequent mutation. No significant difference was found between the auditory performance of mutation positive and negative children after one year follow up (p>0.05).
CONCLUSION
GJB2 gene mutations do not impact on the outcome of cochlear implantation.
目的
分析GJB2基因突变与儿童人工耳蜗植入效果之间的关联。
方法
本研究纳入了2006年至2008年间因先天性重度感音神经性听力损失而接受人工耳蜗植入的65名连续儿童。对儿童进行GJB2基因突变分析。使用MAIS、MUSS和LittlEARS测试评估他们的听觉表现。
结果
65名患者中有22名存在GJB2基因突变，其中35delG是最常见的突变。随访一年后，突变阳性和阴性儿童的听觉表现之间未发现显著差异（p>0.05）。
结论
GJB2基因突变不影响人工耳蜗植入的效果。
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