Author/Authors :
Vojdani, Samaneh Department of Medical Genetics- School of Medicine-Mashhad University of Medical Sciences, Mashhad , Jafarzadeh Esfehani, Reza Medical Genetic Research Center- School of Medicine- Mashhad University of Medical Sciences, Mashhad , Iranmanesh, Vahid Department of Genetic- Academic Center for Education- Culture and Research (ACECR)-Khorasan Razavi, Mashhad , Davari, Hafezeh Department of Genetic- Academic Center for Education- Culture and Research (ACECR)-Khorasan Razavi, Mashhad , Amini, Nafiseh Department of Genetic- Academic Center for Education- Culture and Research (ACECR)-Khorasan Razavi, Mashhad , Jaripour, Mohammad Ehsan Department of Genetic- Academic Center for Education- Culture and Research (ACECR)-Khorasan Razavi, Mashhad , Zargari, Peyman Department of Genetic- Academic Center for Education- Culture and Research (ACECR)-Khorasan Razavi, Mashhad , Dastpak, Mahtab Department of Genetic- Academic Center for Education- Culture and Research (ACECR)-Khorasan Razavi, Mashhad , Sadrnabavi, Ariane Department of Genetic- Academic Center for Education- Culture and Research (ACECR)-Khorasan Razavi, Mashhad
Abstract :
Introduction: Hearing impairment is a complex medical disorder which has genetic and non-genetic causes. Gap Junction Protein Beta 2 (GJB2) gene variant is a well-known disease-causing gene among patients with hearing impairment. The frequencies of genetic variants in the GJB2 gene are different in each population. This study aimed to discuss the GJB2 gene status in an Iranian population with hearing impairment who referred for prenatal testing. Materials and Methods: This cross-sectional study was conducted in a genetic laboratory affiliated with Mashhad Jahad Daneshgahi, Mashhad, Iran. A total number of 21 bilateral hearing impaired patients were enrolled in this study. The exons for target GJB2 gene were amplified by polymerase chain reaction after the confirmation of the hearing impairment and the exclusion of the acquired causes of hearing loss. Results: The c.35delG and c.79G>A variants were the first and second most common variants in the study population, respectively. The mean age of the patients was 27.5 (8.7) years and 12 cases were male. There was no significant association between hearing impairment degree and age and heterozygosity status (P=0.376 and P=.074 respectively). Conclusion: The c.35delG and c.79G>A variants were determined as the first and second most common variants in the GJB2 gene, respectively. The mean age of 26 years in this study population indicates the late referral for the evaluation of the hearing difficulty. Furthermore, it highlights the further need to encourage families with a history of hearing impairment to engage in genetic counseling.
