Prevalence of <em>GJB2</em> gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population

Neagu,Alexandra; Mocanu,Adela-Ioana; Bonciu,Alexandru; Coadă,Gabriella; Mocanu,Horia

doi:10.3892/etm.2021.10044

Prevalence of GJB2 gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population

Authors:
- Alexandra Neagu
- Adela-Ioana Mocanu
- Alexandru Bonciu
- Gabriella Coadă
- Horia Mocanu
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Affiliations: Department of ENT&HNS, ‘Marie S. Curie’ Emergency Children Hospital Bucharest, 041434 Bucharest, Romania, Department of ENT&HNS, Bucharest Emergency University Hospital, 050098 Bucharest, Romania, Department of ENT&HNS, ‘Dr. Carol Davila’ Central Military Emergency University Hospital, 010825 Bucharest, Romania, Department of ENT&HNS, ‘Sfânta Maria’ Clinical Hospital, 011172 Bucharest, Romania, Department of ENT&HNS, Faculty of Medicine, ‘Titu Maiorescu’ University, 031593 Bucharest, Romania
Published online on: April 14, 2021 https://doi.org/10.3892/etm.2021.10044
Article Number: 612

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Abstract

Although etiologically heterogeneous at least 50% of all early on‑set hearing losses have a genetic cause and of these, the large majority, 75‑80% are most probably autosomal recessive and 70% are non‑syndromic. The rest of the congenital hearing losses are determined by clinical and environmental factors such as ototoxic medication, prematurity, and complications at birth. During the last decade it became clear that 50‑80% of all such afflictions result from mutations in a single gene, GJB2, which encodes the protein Connexin 26. In order to, at least partially clarify this problem, especially in an emerging country such as Romania, where the problem is not studied adequately, we developed a comprehensive study of genetic, clinical and environmental risk factors for congenital hearing loss. The two most common variations of this gene, 35delG and W24X in children with positive diagnosis of bilateral severe to profound sensorineural hearing loss were investigated. A cohort of 34 children (20 female and 14 male), ages between 2 and 10 (mean age 4.62 years), coming from 33 non‑related families were evaluated. All cases were diagnosed with severe or profound bilateral congenital SNHL. A statistical comparison of genetic and environmental/clinical prevalence was also attempted since the presence of a genetic disorder cannot rule out the role of other documented risk factors in the etiology of SNHL. The results showed that, 29.4% of cases (10/34) were homozygotic for the 35delG mutation 35delG/35delG), also known as genotype Δ/Δ. 5.88% of cases (2/34) belong to the heterozygotic bi‑genic group 35delG/W24X. The clinical factors with high statistical significance for SNHL in a non‑genetic group have no significance for genetic SNHL patients. Thus, the present study confirms the relatively high prevalence of the 35delG and W24X mutations in cases of congenital non‑syndromic severe of profound bilateral SNHL.

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