Analysis of rod-cone dystrophy genes reveals unique mutational patterns.

ABSTRACT:

Background

Rod-cone dystrophy (RCD) is the most common inherited retinal disease that is characterised by the progressive degeneration of retinal photoreceptors. RCD genes classification is based exclusively on gene mutations' prevalence and does not consider the implication of the same gene in different phenotypes. Therefore, we first investigated the mutations occurrence in autosomal recessive RCD (arRCD) and non-arRCD conditions. Then, finally, we identified arRCD enriched mutational patterns in specific genes and coding exons.

Methods and results

The mutations patterns differed according to arRCD (p=0.001). Specifically, When compared with missense; insertions/deletions (OR=1.2, p=0.007), nonsense (OR=1.2, p=0.014) and splice-site mutations (OR=1.6, p=0.038) increased th

SUBMITTER: Jaffal L 

PROVIDER: S-EPMC9812813 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature