Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia
AbstractBackground 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. View Full-Text
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Plevova, P.; Tvrda, P.; Paprskarova, M.; Turska, P.; Kantorova, B.; Mrazkova, E.; Zapletalova, J. Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia. Medicina 2018, 54, 28.
Plevova P, Tvrda P, Paprskarova M, Turska P, Kantorova B, Mrazkova E, Zapletalova J. Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia. Medicina. 2018; 54(2):28.Chicago/Turabian Style
Plevova, Pavlina; Tvrda, Petra; Paprskarova, Martina; Turska, Petra; Kantorova, Barbara; Mrazkova, Eva; Zapletalova, Jana. 2018. "Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia." Medicina 54, no. 2: 28.
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