title: Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p.
abstract: Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade. We have identified a Northern Irish family with 19 affected individuals in three living generations. We have performed a total genome search and established linkage of CACD in this family to chromosome 17p (multipoint Zmax = 5.65 at D17S938). The genes for phosphatidylinositol transfer protein (PITPN), retinal guanylate cyclase (GUC2D), beta-arrestin 2 (ARRB2), pigment epithelium-derived factor (PEDF) and recoverin (RCV1) map to this region and are candidate genes for retinal disease. Analysis of the coding region of the PITPN gene failed to reveal any mutation in this family.
authors: Department of Medical Genetics, Queen's University of Belfast, Northern Ireland, UK.
authors: A J
authors: AJ
authors: Lotery
authors: K T
authors: KT
authors: Ennis
authors: G
authors: G
authors: Silvestri
authors: S
authors: S
authors: Nicholl
authors: D
authors: D
authors: McGibbon
authors: A D
authors: AD
authors: Collins
authors: A E
authors: AE
authors: Hughes
mesh_terms: D019390:Arrestins / Q000235:genetics; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D015862:Choroid Diseases / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D016208:Databases, Factual; D005136:Eye Proteins; D008040:Genetic Linkage; D006162:Guanylate Cyclase / Q000235:genetics; D051597:Hippocalcin; D006801:Humans; D008074:Lipoproteins; D008565:Membrane Proteins; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009414:Nerve Growth Factors; D009419:Nerve Tissue Proteins; D010375:Pedigree; D049294:Phospholipid Transfer Proteins; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics; D051603:Recoverin; D012160:Retina / Q000201:enzymology; D015843:Serpins / Q000235:genetics; D000071560:beta-Arrestin 2; D000071557:beta-Arrestins; D000099174:Pigment Epithelium-Derived Factor
chemical_list: D019390:Arrestins; D002135:Calcium-Binding Proteins; D002352:Carrier Proteins; D005136:Eye Proteins; D006162:Guanylate Cyclase; D051597:Hippocalcin; D008074:Lipoproteins; D008565:Membrane Proteins; D009414:Nerve Growth Factors; D009419:Nerve Tissue Proteins; D049294:Phospholipid Transfer Proteins; D011506:Proteins; D051603:Recoverin; D015843:Serpins; D000071560:beta-Arrestin 2; D000071557:beta-Arrestins; D000099174:Pigment Epithelium-Derived Factor; C000605254:ARRB2 protein, human; C496731:RCVRN protein, human