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Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia
Background and Objective: Hearing loss is the most common sensory deficit in humans. The aim of this study was to clarify the genetic aetiology of nonsyndromic hearing loss in the Moravian-Silesian population of the Czech Republic. Patients and Methods: This study included 200 patients (93 males, 10...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037260/ https://www.ncbi.nlm.nih.gov/pubmed/30344259 http://dx.doi.org/10.3390/medicina54020028 |
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author | Plevova, Pavlina Tvrda, Petra Paprskarova, Martina Turska, Petra Kantorova, Barbara Mrazkova, Eva Zapletalova, Jana |
author_facet | Plevova, Pavlina Tvrda, Petra Paprskarova, Martina Turska, Petra Kantorova, Barbara Mrazkova, Eva Zapletalova, Jana |
author_sort | Plevova, Pavlina |
collection | PubMed |
description | Background and Objective: Hearing loss is the most common sensory deficit in humans. The aim of this study was to clarify the genetic aetiology of nonsyndromic hearing loss in the Moravian-Silesian population of the Czech Republic. Patients and Methods: This study included 200 patients (93 males, 107 females, mean age 16.9 years, ranging from 4 months to 62 years) with nonsyndromic sensorineural hearing loss. We screened all patients for mutations in GJB2 and the large deletion del(GJB6-D13S1830). We performed further screening for additional genes (SERPINB6, TMIE, COCH, ESPN, ACTG1, KCNQ4, and GJB3) with Sanger sequencing on a subset of patients that were negative for GJB2 mutations. Results: We detected biallelic GJB2 mutations in 44 patients (22%). Among these patients, 63.6%, 9.1% and 2.3% exhibited homozygous c.35delG, p.Trp24*, and p.Met34Thr mutations, respectively. The remaining 25% of these patients exhibited compound heterozygous c.35delG, c.-23+1G>A, p.Trp24*, p.Val37Ile, p.Met34Thr, p.Leu90Pro, c.235delC, c.313_326del14, p.Ser139Asn, and p.Gly147Leu mutations. We found a monoallelic GJB2 mutation in 12 patients (6.6%). We found no pathogenic mutations in the other tested genes. Conclusions: One fifth of our cohort had deafness related to GJB2 mutations. The del(GJB6-D13S1830), SERPINB6, TMIE, COCH, ESPN, ACTG1, GJB3, and KCNQ4 mutations were infrequently associated with deafness in the Moravian-Silesian population. Therefore, we suggest that del(GJB6-D13S1830) testing should be performed only when patients with deafness carry the monoallelic GJB2 mutation. |
format | Online Article Text |
id | pubmed-6037260 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-60372602018-10-18 Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia Plevova, Pavlina Tvrda, Petra Paprskarova, Martina Turska, Petra Kantorova, Barbara Mrazkova, Eva Zapletalova, Jana Medicina (Kaunas) Article Background and Objective: Hearing loss is the most common sensory deficit in humans. The aim of this study was to clarify the genetic aetiology of nonsyndromic hearing loss in the Moravian-Silesian population of the Czech Republic. Patients and Methods: This study included 200 patients (93 males, 107 females, mean age 16.9 years, ranging from 4 months to 62 years) with nonsyndromic sensorineural hearing loss. We screened all patients for mutations in GJB2 and the large deletion del(GJB6-D13S1830). We performed further screening for additional genes (SERPINB6, TMIE, COCH, ESPN, ACTG1, KCNQ4, and GJB3) with Sanger sequencing on a subset of patients that were negative for GJB2 mutations. Results: We detected biallelic GJB2 mutations in 44 patients (22%). Among these patients, 63.6%, 9.1% and 2.3% exhibited homozygous c.35delG, p.Trp24*, and p.Met34Thr mutations, respectively. The remaining 25% of these patients exhibited compound heterozygous c.35delG, c.-23+1G>A, p.Trp24*, p.Val37Ile, p.Met34Thr, p.Leu90Pro, c.235delC, c.313_326del14, p.Ser139Asn, and p.Gly147Leu mutations. We found a monoallelic GJB2 mutation in 12 patients (6.6%). We found no pathogenic mutations in the other tested genes. Conclusions: One fifth of our cohort had deafness related to GJB2 mutations. The del(GJB6-D13S1830), SERPINB6, TMIE, COCH, ESPN, ACTG1, GJB3, and KCNQ4 mutations were infrequently associated with deafness in the Moravian-Silesian population. Therefore, we suggest that del(GJB6-D13S1830) testing should be performed only when patients with deafness carry the monoallelic GJB2 mutation. MDPI 2018-05-04 /pmc/articles/PMC6037260/ /pubmed/30344259 http://dx.doi.org/10.3390/medicina54020028 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Plevova, Pavlina Tvrda, Petra Paprskarova, Martina Turska, Petra Kantorova, Barbara Mrazkova, Eva Zapletalova, Jana Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia |
title | Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia |
title_full | Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia |
title_fullStr | Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia |
title_full_unstemmed | Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia |
title_short | Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia |
title_sort | genetic aetiology of nonsyndromic hearing loss in moravia-silesia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037260/ https://www.ncbi.nlm.nih.gov/pubmed/30344259 http://dx.doi.org/10.3390/medicina54020028 |
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