Mon, Feb 16, 2026
Volume 12, Issue 1 (Winter 2026 2026)
Caspian J Neurol Sci 2026, 12(1): 17-24 |
Back to browse issues page
Ethics code: IR.GUMS.REC.1396.542
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Nemati S, Sharafshah A, Albonaim A, Khani M, Faghih Habibi A, Abed S et al . The Prevalence of GJB2 Mutation (35delG) in Patients With Non-syndromic Hearing Loss From Northern Iranian Population. Caspian J Neurol Sci 2026; 12 (1) :17-24
URL: http://cjns.gums.ac.ir/article-1-808-en.html
URL: http://cjns.gums.ac.ir/article-1-808-en.html
Shadman Nemati1 
, Alireza Sharafshah2 , Ali Albonaim2 , Masoumeh Khani3 , Ali Faghih Habibi1 , Samin Abed1 , Parvaneh Keshavarz *4
, Alireza Sharafshah2 , Ali Albonaim2 , Masoumeh Khani3 , Ali Faghih Habibi1 , Samin Abed1 , Parvaneh Keshavarz *4
1- Department of Otolaryngology and Head and Neck Surgery, Otorhinolaryngology Research Center, School of Medicine, Amiralmomenin Hospital, Guilan University of Medical Sciences, Rasht, Iran
2- Cellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran
3- Devision of Molecular Genetics, Dr. Keshavarz Medical Genetic Lab, Rasht, Iran
4- Cellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran ,keshavarz@gums.ac.ir
2- Cellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran
3- Devision of Molecular Genetics, Dr. Keshavarz Medical Genetic Lab, Rasht, Iran
4- Cellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran ,
Abstract: (37 Views)
Background: Biallelic mutations in GJB2 are responsible for over half of all autosomal recessive non-syndromic hearing loss (ARNSHL) cases, establishing it as the most critical locus for this disorder globally. Among its many variants, 35delG is one of the most frequently reported.
Objectives: The current study aimed to investigate the prevalence of 35delG and other mutations associated with non-syndromic hearing loss among northern Iranian populations.
Materials & Methods: This study included 313 individuals with non-syndromic hearing loss (age range: 2–84 years; 55.6% female, 44.4% male). Genotyping for the 35delG variant was performed using allele-specific PCR (ARMS). Samples homozygous for 35delG were identified for subsequent analysis, while all other samples underwent bidirectional Sanger sequencing of the entire GJB2 gene. All statistical analyses were conducted using SPSS software, version 25.
Results: Genetic analysis revealed that 42 individuals (13.4%) were homozygous for the 35delG mutation. An additional 38 subjects (12.14%) were heterozygous for this variant. Other pathogenic mutations were identified in 24 individuals, comprising 4 homozygotes (1.28%) and 20 heterozygotes (6.40%). The specific homozygous mutations other than 35delG were NM_004004.6:c.1+1G>A, NM_004004.6:c.427C>T (p.Arg143Trp), and NM_004004.6:c.290_291insA. Furthermore, 17 individuals (5.43%) were compound heterozygotes. The overall allele frequency for the 35delG variant in the studied population was 21.57%.
Conclusion: This study confirms the high frequency of the 35delG mutation in the GJB2 gene among northern Iranians over a 7-year period. A consanguineous background was present in half of the 35delG carriers, a notable association that likely explains the high prevalence of this mutation in the studied population.
Objectives: The current study aimed to investigate the prevalence of 35delG and other mutations associated with non-syndromic hearing loss among northern Iranian populations.
Materials & Methods: This study included 313 individuals with non-syndromic hearing loss (age range: 2–84 years; 55.6% female, 44.4% male). Genotyping for the 35delG variant was performed using allele-specific PCR (ARMS). Samples homozygous for 35delG were identified for subsequent analysis, while all other samples underwent bidirectional Sanger sequencing of the entire GJB2 gene. All statistical analyses were conducted using SPSS software, version 25.
Results: Genetic analysis revealed that 42 individuals (13.4%) were homozygous for the 35delG mutation. An additional 38 subjects (12.14%) were heterozygous for this variant. Other pathogenic mutations were identified in 24 individuals, comprising 4 homozygotes (1.28%) and 20 heterozygotes (6.40%). The specific homozygous mutations other than 35delG were NM_004004.6:c.1+1G>A, NM_004004.6:c.427C>T (p.Arg143Trp), and NM_004004.6:c.290_291insA. Furthermore, 17 individuals (5.43%) were compound heterozygotes. The overall allele frequency for the 35delG variant in the studied population was 21.57%.
Conclusion: This study confirms the high frequency of the 35delG mutation in the GJB2 gene among northern Iranians over a 7-year period. A consanguineous background was present in half of the 35delG carriers, a notable association that likely explains the high prevalence of this mutation in the studied population.
Type of Study: Research |
Subject:
Special
Received: 2025/09/20 | Accepted: 2025/11/30 | Published: 2026/01/11
Received: 2025/09/20 | Accepted: 2025/11/30 | Published: 2026/01/11
Send email to the article author
| Rights and permissions | |
 | This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
Copyright © The Author(s);
This is an open access article distributed under the terms of the Creative Commons Attribution License (CC-By-NC), which permits use, distribution, and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
Contact Information
