Balkan Journal of Medical Genetics

DETECTION OF THE GJB2 MUTATION IN IRANIAN CHILDREN WITH HEARING LOSS TREATED WITH COCHLEAR IMPLANTATION
Peyvandi AA1, Morovvati S2,*, Rabiee HR3, Ranjbar R3, Ajalloueyan M 4, Hassanalifard M4
*Corresponding Author: Saeid Morovvati, Research Center for Human Genetics, Baqiyatallah University of Medical Sciences, Tehran, POB: 19395/5487, Iran; Tel./Fax: +98-21-88620812; E-mail: morovvati@hotmail. com; morovvati@bmsu.ac.ir
page: 19

RESULTS

Mutation Detection in Our Subjects and Their Response to Cochlear Implantation. In the present study we analyzed the coding region of the Cx26 gene in 42 children with non syndromic hearing loss and found two homozygotes and four heterozygotes for the 35delG mutation (Figure 1). In other words, six patients (14.3%) had the 35delG mutation on the Cx26 gene. No other mutations were identified in our subjects. Mutation frequency in the patients is shown in Figure 2.Treatment response was assessed in all patients. According to results of SIR, it seems that treatment response in children with the mutation was better than in children with no mutation, and also treatment response in children homozygous for the 35delG mutation was better than in heterozygous patients (Figures 3 and 4).Details of SIR scores of included children before and 3, 6 and 12 months after CI are shown in Table 1.

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