title: A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13.
abstract: Inherited retinal dystrophy is a common cause of visual impairment. Cone dystrophy affects the cone function and is manifested as progressive loss of the central vision, defective color vision, and photophobia. Linkage was demonstrated between progressive cone dystrophy (CORD5) and genetic markers on chromosome 17p12-p13 in a five-generation family. Multipoint analysis gave a maximum lod score of 7.72 at the marker D17S938. Recombinant haplotypes in the family suggest that the cone dystrophy locus is located in a 25-cM interval between the markers D17S926/D17S849 and D17S804/D17S945. Furthermore, one recombination was detected between the disease locus and a microsatellite marker in the candidate gene RCV1, encoding the retinal protein recoverin. Two additional candidate genes encoding retinal guanylate cyclase (GUC2D) and pigment epithelium-derived factor (PEDF) are located at 17p13.1. Moreover, loci for retinitis pigmentosa and Leber congenital amaurosis have been mapped to the same region. Identification of the cone dystrophy locus may be of importance not only for identifying functional genes in the cone system, but also for identifying genes for other retinal disorders.
authors.affiliation: Department of Clinical Genetics, University Hospital, Umaå, Sweden.
authors.forename: J
authors.initials: J
authors.lastname: Balciuniene
authors.forename: K
authors.initials: K
authors.lastname: Johansson
authors.forename: O
authors.initials: O
authors.lastname: Sandgren
authors.forename: L
authors.initials: L
authors.lastname: Wachtmeister
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: K
authors.initials: K
authors.lastname: Forsman
mesh_terms: D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics*
chemical_list: D011506:Proteins