Article
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clinical genetics - 1 Aug 2024
Del Pozo-Valero Marta, Almoallem Basamat, Dueñas Rey Alfredo, Mahieu Quinten, Van Heetvelde Mattias, Jeddawi Laila, Bauwens Miriam, De Baere Elfride
Abstract excerpt
Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment. Herein, we studied 15 Saudi families by whole exome sequencing (WES) and run-of-homozygosity (ROH) detection via AutoMap in 12/15 consanguineous families. This revealed (likely) pathogenic variants in 11/15 families (73%). A potential founder variant was...
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