Determination of genetic etiology using targeted next generation sequence analysis -EgeDeafness- in sensorineural hearing losses
Project no. 67 · Status: Kapanmış · 2017
Summary
In order for an individual with hearing loss to receive a standard follow-up and care, it is important to determine the molecular etiology with advanced genetic analysis. In this study, the genetic etiology of hearing loss was investigated in cases followed up for sensorineural hearing loss. Patients whose clinical evaluations were examined from follow-up files, mutations in the GJB2 gene were previously screened, were included in the study, and a detailed systemic examination was performed by extracting at least 3 generation family trees of each proband. In the study design, the cases were analyzed using a next generation sequence analysis panel, which we named EgeDeafness, which includes 129 genes that were previously reported to be responsible for the genetic etiology of hearing loss. Using this approach, we identified the genetic cause responsible for the clinical feature in 15 of 30 patients. Eighteen different variants were detected in a total of 12 genes. Eight of these variants had not been previously identified. With our study design, our rate of mutation detection was 50%. This result shows that targeted next generation sequencing analysis is a useful method in congenital hearing loss.