and Mendelian Retinal Dystrophy

Can a genome-wide association study (GWAS) approach be used to identify genes associated with inherited retinal disease (IRD)? 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, , was confirmed as a rare mendelian IRD gene in independent Finnish and UK clinical cohorts; an c.505-1G >C founder variant showed a loss-of-function effect. These findings support the need to include in clinical IRD gene panels.

Corresponding Authors: Tuomo Mantere, PhD (tuomo.mantere@oulu.fi), and Elisa Rahikkala, MD, PhD (elisa.rahikkala@oulu.fi), Biocenter Oulu, University of Oulu, FI-90220, Oulu, Finland.

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