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Genetics Research International
Volume 2011, Article ID 787026, 6 pages
Research Article

Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss

1ENT Research Center, Department of Otorhinolarygology, Head and Neck Surgery, Amir Alam Hospital, Tehran University of Medical Sciences, Tehran 1145765111, Iran
2Students Scientific Research Center, Tehran University of Medical Science, Tehran 1417613151, Iran
3Department of Medicine, Columbia University, New York, NY 10032, USA
4Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA
5Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
6Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA

Received 6 June 2011; Revised 1 September 2011; Accepted 28 September 2011

Academic Editor: Karen Friderici

Copyright © 2011 Masoud Motasaddi Zarandy et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 . 1 0 ). 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 . 2 2 ). 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.