Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

A genome-wide single-nucleotide polymorphism (SNP) haplotype analysis is conducted to determine the causes of the recessive cone-rod dystrophies, the inherited dystrophies of the retina. The mutations in the ancient conserved domain protein 4 gene (CNNM4) are shown to widely cause the dystrophy with amelogenesis imperfecta.