Targeted next generation sequencing for molecular diagnosis of usher syndrome

Abstract

Background: Usher syndrome is an autosomal recessive disease that associates sensorineural hearingloss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To date, 10 genes have been associated with the disease, making its molecular diagnosis based on Sanger sequencing, expensive and time-consuming. Consequently, the aim of the present study was to develop a molecular diagnostics method for Usher syndrome, based on targeted next generation sequencing.