Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

ABSTRACT: Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) to modulate splicing. We performed a screening of five previously described USH2A deep-intronic variants among USH2A monoallelic patients with Usher syndrome (USH) or isolated retinitis pigmentosa. Sequencing of entire USH2A or USH genes was then conducted in unresolved or newly monoallelic cases. The splicing impact of identified variants was assessed using minigene assays, and ASOs were designed to correct splicing. The screening allowed to diagnose 30.95% of the studied patients. The sequencing of USH genes revealed 16 ne

SUBMITTER: Garcia-Bohorquez B 

PROVIDER: S-EPMC11612772 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature