A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

ABSTRACT: Retinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants in PRCD and BEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants, indicating additional genetic causes of disease in the breed. We collected DNA samples from 10 PRA affected LHs, with known PRCD and BEST1 variants excluded, and 34 unaffected LHs. A genome-wide association study identified a locus on CFA20 (p_raw = 2.4 × 10^-7, p_Bonf = 0.035),

SUBMITTER: Kaukonen M 

PROVIDER: S-EPMC8519925 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature