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.
Christine NeuhausTobias EisenbergerChristian DeckerSandra NaglCornelia BlankMarkus PfisterIngo KennerknechtCornelie Müller-HofstedePeter Charbel IssaRaoul HellerBodo BeckKlaus RütherDiana MitterKlaus RohrschneiderUte SteinhauerHeike M KorbmacherDagmar HuhleSolaf M ElsayedHesham M TahaShahid M BaigHeidi StöhrMarkus PreisingSusanne MarkusFabian MoellerBirgit LorenzKerstin Nagel-WolfrumArif O KhanHanno J BolzPublished in: Molecular genetics & genomic medicine (2017)
Targeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.