A dominant CORD phenotype was observed in double transgenic animals expressing both mutant P351Δ12 and normal hAIPL1, but not with co-expression of P351Δ12 hAIPL1 and the mouse isoform, aryl hydrocarbon receptor interacting protein-like 1 (mAipl1).
Mutations in the primate-specific proline-rich domain (PRD) of aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) are thought to cause Leber congenital amaurosis or dominant cone-rod dystrophy.
Gene defects in AIPL1 cause a heterogeneous set of conditions ranging from Leber's congenital amaurosis (LCA), the severest form of early-onset retinal degeneration, to milder forms such as retinitis pigmentosa (RP) and cone-rod dystrophy.
We also identified affected individuals in two apparently dominant families, diagnosed with juvenile retinitis pigmentosa or dominant cone-rod dystrophy, respectively, who are heterozygous for a 12-bp AIPL1 deletion.