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Genetics Research International
Volume 2017, Article ID 5836525, 3 pages
https://doi.org/10.1155/2017/5836525
Research Article

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

1Universitäts-HNO-Klinik Tübingen, Tübingen, Germany
2Department of Bioinformatics, Africa City of Technology, Khartoum, Sudan
3Faculty of Biotechnology, University of Malakand, Malakand, Pakistan
4Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan
5Department of Basic Medical Sciences, Faculty of Dentistry, University of Khartoum, Khartoum, Sudan

Correspondence should be addressed to Mutaz Amin; ku.oc.liamtoh@88ztm

Received 23 April 2017; Revised 4 July 2017; Accepted 11 July 2017; Published 6 December 2017

Academic Editor: Xinhua Shu

Copyright © 2017 Hazem Kaheel 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.

Abstract

Background. Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods. We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations. Results. The result revealed that, in GJB2 gene, c.35delG is the most prevalent among affected studied subjects (13.64%), followed by c.457G>A (2.4%). Conclusion. The benefit of this study on the one hand is its first report of prelingual deafness causative gene mutations identified by sequencing technology in the Syrian families. It is obvious from the results that the deployment in biomedical research is highly effective and has a great impact on the ability to uncover the cause of genetic variation in different genetic diseases.