Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation‐Associated Non‐Syndromic Hearing Loss in Morocco

Objective: c.35delG mutation among Moroccan patients with nonsyndromic sensorineural hearing loss (NSHL) and compare it with frequencies reported in other North African populations. Study Design: Retrospective cohort study. Setting: Multidisciplinary tertiary care hearing loss genetics clinic. Methods: A total of 304 unrelated Moroccan patients with prelingual bilateral (NSHL), recruited between May 2022 and June 2025, were included. Genomic Deoxyribonucleic Acid (DNA) was extracted from peripheral blood samples, and the c.35delG mutation was detected via PCR amplification and Sanger sequencing. Demographic and clinical data, including age at diagnosis, sex, and family history, were systematically collected. Results: The c.35delG mutation contributed to 18% of (NSHL) cases in this cohort, with homozygosity being the most frequent genotype. The mutation was especially prevalent in patients from consanguineous families. Clinically, hearing loss was early-onset, bilateral, and mostly profound, demonstrating a strong genotype-phenotype correlation. The observed frequency aligns with regional data from other North African populations, reflecting a shared genetic background. Conclusion: genetic screening into early diagnostics, genetic counseling, and targeted prevention programs, particularly in populations with high consanguinity rates.

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Journal
OTO Open
Published
2026-06-29
DOI
https://doi.org/10.1002/oto2.70276
Primary Topic
Hearing, Cochlea, Tinnitus, Genetics
Type
article
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article

Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation‐Associated Non‐Syndromic Hearing Loss in Morocco

Meriem El Qabli, Youssef Lakhdar, Maria Mansouri, Mohamed Chehbouni et al.
OTO Open
Hearing, Cochlea, Tinnitus, Genetics
article

Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation‐Associated Non‐Syndromic Hearing Loss in Morocco

Meriem El Qabli, Youssef Lakhdar, Maria Mansouri, Mohamed Chehbouni, Nisrine Aboussair, Loubna SOUFIAN, Fatima Zahrae Bouzid, El Mostafa Salman, Abdelaziz Raji, Youssef Rochdi, Omar Oulghoul
article en

Abstract

Objective: c.35delG mutation among Moroccan patients with nonsyndromic sensorineural hearing loss (NSHL) and compare it with frequencies reported in other North African populations. Study Design: Retrospective cohort study. Setting: Multidisciplinary tertiary care hearing loss genetics clinic. Methods: A total of 304 unrelated Moroccan patients with prelingual bilateral (NSHL), recruited between May 2022 and June 2025, were included. Genomic Deoxyribonucleic Acid (DNA) was extracted from peripheral blood samples, and the c.35delG mutation was detected via PCR amplification and Sanger sequencing. Demographic and clinical data, including age at diagnosis, sex, and family history, were systematically collected. Results: The c.35delG mutation contributed to 18% of (NSHL) cases in this cohort, with homozygosity being the most frequent genotype. The mutation was especially prevalent in patients from consanguineous families. Clinically, hearing loss was early-onset, bilateral, and mostly profound, demonstrating a strong genotype-phenotype correlation. The observed frequency aligns with regional data from other North African populations, reflecting a shared genetic background. Conclusion: genetic screening into early diagnostics, genetic counseling, and targeted prevention programs, particularly in populations with high consanguinity rates.

OTO OpenVol. 10(3)
Cadi Ayyad University (MA), Centre Hospitalier Universitaire Mohammed VI (MA)
Good health and well-being
Openalex Percentile: Top 9%
Hearing, Cochlea, Tinnitus, Genetics
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