EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

Abstract Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 major genetic cause recessive RP worldwide, with prevalence 5 to 30%. In this study, by using targeted NGS, MLPA Sanger sequencing we uncovered the gene as one most common autosomal in northern Sweden accounting for at least 16%. frequent pathogenic variant was c.8648_8655del that some patients identified cis c.1155T>A, indicating Finnish ancestry. We also showed two novel variants, c.2992_2992+6delinsTG c.3877+1G>A caused exon skipping human embryonic kidney cells, HEK293T pigment epithelium ARPE-19 demonstrating vitro minigene assay straightforward tool analysis intronic variants. conclude, whenever it possible, functional testing great value classification variants following molecular family members, their counselling, inclusion future treatment studies.