Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

ABSTRACT: Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has revolutionized the molecular diagnosis of these diseases, the pathogenicity of some mutations casts doubts. After the screening of 208 patients with a panel of 117 genes, we obtained 383 variants that were analysed in silico with bioinformatic prediction programs. Based on the results of these tools, we selected 15 variants for their functional assessment. Therefore, we carried out minigene assays to unveil whether they could affect the splicing of the corresponding gene. As a whole, seven variants were found to induce aberrant splicing in the following g

SUBMITTER: Rodriguez-Munoz A 

PROVIDER: S-EPMC8742059 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature