Minna Kraatari-Tiri

XXYLT1 and Mendelian Retinal Dystrophy

Key Points Question Can a genome-wide association study (GWAS) approach be used to identify genes associated with inherited retinal disease (IRD)? Findings Using a recessive model, this GWAS identified 13 loci (9 known and 4 previously unknown putative loci) with genome-wide significance. One of the identified genes, XXYLT1, was confirmed as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts; an XXYLT1 c.505-1G>C founder variant showed a loss-of-function effect. Meaning These findings support the need to include XXYLT1 in clinical IRD gene panels.