Daneshi A, Hassanzadeh S, Emamdjomeh H, Mohammadi S H, Arzhangi S, Farhadi M, Najmabadi H
Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran.
J Laryngol Otol. 2011 May;125(5):455-9. doi: 10.1017/S0022215110002999. Epub 2011 Jan 31.
To investigate the prevalence of mutations in the coding exon of the GJB2 gene in Iranian children with cochlear implants, and to compare the outcomes of auditory perception and speech production in cochlear-implanted children with and without GJB2 mutation.
One hundred and sixty-six prelingually deaf children who had undergone cochlear implantation at the Iranian Cochlear Implant Center, Tehran, were selected from a pool of 428 implanted children. The prevalence of GJB2 gene mutations was assessed using nested polymerase chain reaction and direct sequencing. To enable comparisons, we also identified 36 implanted children with non-GJB2 deafness. Patients' speech perception and speech production were assessed using the Categorization of Auditory Performance and Speech Intelligibility Rating scales.
Thirty-three of 166 probands (19.9 per cent) were found to have GJB2 deafness-causing allele variants and were diagnosed with DFNB1 deafness. Results also indicated a significant improvement in speech perception and production scores in both GJB2 and non-GJB2 patients over time.
Children with GJB2-related deafness benefit from cochlear implantation to the same extent as those with non-GJB2-related deafness.
研究伊朗接受人工耳蜗植入的儿童中GJB2基因编码外显子的突变率，并比较有无GJB2基因突变的人工耳蜗植入儿童的听觉感知和言语产生结果。
从德黑兰伊朗人工耳蜗植入中心428例接受植入手术的儿童中选取166例语前聋儿童。采用巢式聚合酶链反应和直接测序法评估GJB2基因突变率。为了进行比较，我们还确定了36例非GJB2耳聋的植入儿童。使用听觉表现分类和言语清晰度评分量表评估患者的言语感知和言语产生情况。
166例先证者中有33例（19.9%）发现有导致GJB2耳聋的等位基因突变，被诊断为DFNB1耳聋。结果还表明，随着时间的推移，GJB2和非GJB2患者的言语感知和产生分数均有显著改善。
与非GJB2相关耳聋的儿童一样，GJB2相关耳聋的儿童也能从人工耳蜗植入中获益。
