Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations phenocopies a predominant target for translational read‐through and PEX26 mutated in Heimler syndrome

摘要

BackgroundCombined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP).