NEW PAPER ALERT!
By Alfredo Duenas Rey
This study focuses on the significance of 5' untranslated region (5'UTR) variants in inherited retinal diseases (IRDs). It presents a comprehensive approach involving the analysis of retinal RNA data for 378 IRD genes, assessment of 5'UTR coverage in whole exome sequencing data, and evaluation of 5'UTR variants in large patient cohorts. The study identified 11 potentially pathogenic variants in 10 genes, with two of them validated as having functional effects. Notably, the MERTK:c.-125G>A variant reduced luciferase mRNA levels and activity, while the RDH12:c.-123C>T variant, found in conjunction with another reported variant, resulted in reduced RDH12 protein levels. This research underscores the importance of 5'UTR variants in IRDs and offers a systematic strategy for annotating and validating such variants, applicable to other inherited diseases.