Motasaddi Zarandy Masoud, Rohanizadegan Mersedeh, Salmasian Hojjat, Nikzad Nooshin, Bazazzadegan Niloofar, Malekpour Mahdi
ENT Research Center, Department of Otorhinolarygology, Head and Neck Surgery, Amir Alam Hospital, Tehran University of Medical Sciences, Tehran 1145765111, Iran.
Genet Res Int. 2011;2011:787026. doi: 10.4061/2011/787026. Epub 2011 Nov 24.
Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing loss were included. Forty-six patients had 35delG in GJB2. Speech awareness thresholds (SATs) and speech recognition thresholds (SRTs) improved following implantation, but there was no difference in performance between patients with GJB2-related deafness versus control (all P > 0.10). Both groups had produced their first comprehensible words within the same period of time following implantation (2.27 months in GJB2-related deaf versus 2.62 months in controls, P = 0.22). Although our findings demonstrate the need to uncover unidentified genetic causes of hereditary deafness, they do not support the current policy for genetic screening before cochlear implantation, nor prove a prognostic value.
突变筛查的临床应用及其对人工耳蜗植入结果的影响存在广泛争议。我们在近亲结婚率高且患有常染色体隐性非综合征性听力损失的人群中，研究了GJB2基因突变对人工耳蜗植入结果的影响。纳入了201例患有严重语前感音神经性听力损失的儿童。46例患者的GJB2基因存在35delG突变。植入后言语察觉阈值（SATs）和言语识别阈值（SRTs）有所改善，但GJB2相关耳聋患者与对照组之间的表现没有差异（所有P>0.10）。两组在植入后的同一时间段内都说出了第一个可理解的单词（GJB2相关耳聋患者为2.27个月，对照组为2.62个月，P = 0.22）。尽管我们的研究结果表明有必要揭示遗传性耳聋尚未明确的遗传原因，但它们不支持目前人工耳蜗植入前进行基因筛查的政策，也未证明其具有预后价值。
