Functional Studies of AIPL1

Abstract

Leber congenital amaurosis (LCA) is a genetically heterogeneous, autosomal recessive retinal degenerative disease responsible for approximately 5% of all inherited retinopathies (Kaplan et al., 1990). LCA is often considered the most severe form of childhood retinopathy, and infants with this disease are usually blind at birth. To date, mutations in six genes have been found to cause LCA and two additional loci have been mapped (www.sph.uth.tmc.edu/RetNet/). Recently, we identified the fourth LCA associated gene, the aryl hydrocarbon receptor interacting protein-like 1(AIPL1)(Sohocki et al., 2000a). Mutations in AIPL1 are estimated to account for approximately 7-9% of LCA cases worldwide and have been found to cause autosomal dominant cone-rod dystrophy (Sohocki et al., 2000b). Mutations in the aryl hydrocarbon receptor-interacting protein-like 1(AIPL1)gene have been found to cause autosomal recessive Leber congenital amaurosis (LCA), an early onset form of retinal degeneration. AsAIPL1is a novel gene, it is necessary to determine its normal function to better understand how mutations in this gene lead to disease.