Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia

• Published in: Medicina (Kaunas, Lithuania) Lithuania), 2018-05, Vol.54 (2), p.28
• Main Authors: Plevova, Pavlina, Tvrda, Petra, Paprskarova, Martina, Turska, Petra, Kantorova, Barbara, Mrazkova, Eva, Zapletalova, Jana
• Format: Article
• Language: English
• ISSN: 1648-9144; 1010-660X; 1648-9144
• DOI: 10.3390/medicina54020028

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. 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 and the large deletion del( -D13S1830). We performed further screening for additional genes ( , , , , , , and ) with Sanger sequencing on a subset of patients that were negative for mutations. We detected biallelic 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 mutation in 12 patients (6.6%). We found no pathogenic mutations in the other tested genes. One fifth of our cohort had deafness related to mutations. The del( -D13S1830), , , , , , , and mutations were infrequently associated with deafness in the Moravian-Silesian population. Therefore, we suggest that del( -D13S1830) testing should be performed only when patients with deafness carry the monoallelic mutation.