In a 4-generation family segregating autosomal dominant cone-rod dystrophy mapping to chromosome 4p, Yang et al. (2008) identified heterozygosity for a missense mutation in the PROM1 gene (604365.0003). The authors identified the same mutation in a family with ... In a 4-generation family segregating autosomal dominant cone-rod dystrophy mapping to chromosome 4p, Yang et al. (2008) identified heterozygosity for a missense mutation in the PROM1 gene (604365.0003). The authors identified the same mutation in a family with Stargardt disease (STGD4; 603786) and a family with retinal macular dystrophy (MCDR2; 608051); the mutation was not found in 400 matched controls.