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Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia
P. Plevova, P. Tvrda, M. Paprskarova, P. Turska, B. Kantorova, E. Mrazkova, J. Zapletalova,
Language English Country Switzerland
Document type Journal Article
Grant support
NT/12246-5
Internal Grant Agency, Ministry of Health of the Czech Republic
NLK
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- MeSH
- Actins genetics MeSH
- Child MeSH
- Adult MeSH
- KCNQ Potassium Channels genetics MeSH
- Extracellular Matrix Proteins genetics MeSH
- Deafness genetics MeSH
- Infant MeSH
- Connexins genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Microfilament Proteins genetics MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mutation genetics MeSH
- DNA Mutational Analysis methods MeSH
- Hearing Loss, Sensorineural genetics MeSH
- Child, Preschool MeSH
- Serpins genetics MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czech Republic MeSH
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.
References provided by Crossref.org
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- $a Plevova, Pavlina $u Department of Medical Genetics, University Hospital Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic. pavlina.plevova@volny.cz.
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- $a Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia / $c P. Plevova, P. Tvrda, M. Paprskarova, P. Turska, B. Kantorova, E. Mrazkova, J. Zapletalova,
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- $a 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.
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- $a Tvrda, Petra $u Department of Medical Genetics, University Hospital Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic. petula.g@centrum.cz.
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- $a Paprskarova, Martina $u Department of Medical Genetics, University Hospital Ostrava, 17. listopadu 1790, 708 52 Ostrava, Czech Republic. MartaPaprskarova@seznam.cz.
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- $a Mrazkova, Eva $u Department of Epidemiology and Public Health, Faculty of Medicine, University of Ostrava, Syllabova 19, 703 00 Ostrava, Zábřeh, Czech Republic. eva.mrazkova@centrum.cz. Department of Otorhinolaryngology, Hospital of Havířov, Dělnická 1132/24, 736 01 Havířov, Czech Republic. eva.mrazkova@centrum.cz.
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- $a Zapletalova, Jana $u Department of Medical Biophysics, Faculty of Medicine and Dentistry, Palacky University Olomouc, Hnevotinska 3, 775 15 Olomouc, Czech Republic. ja.zapletalova@upol.cz.
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