Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p

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 s...

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Bibliographic Details
Published in:Human molecular genetics 1996-05, Vol.5 (5), p.705-708
Main Authors: Lotery, Andrew J., Ennis, Kevin T., Silvestri, Giuliana, Nicholl, Suzanne, McGibbon, David, Collins, Alan D., Hughes, Anne E.
Format: Article
Language:English
Subjects:
Arrestins - genetics
Base Sequence
beta-Arrestin 2
beta-Arrestins
Biological and medical sciences
Calcium-Binding Proteins - genetics
Carrier Proteins - genetics
Choroid Diseases - genetics
Chromosomes, Human, Pair 17
Databases, Factual
Eye Proteins
Genetic Linkage
Guanylate Cyclase - genetics
Hippocalcin
Humans
Lipoproteins
Medical sciences
Membrane Proteins
Microsatellite Repeats
Molecular Sequence Data
Nerve Growth Factors
Nerve Tissue Proteins
Ophthalmology
Pedigree
Phospholipid Transfer Proteins
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Proteins - genetics
Recoverin
Retina - enzymology
Retinopathies
Serpins - genetics
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Summary: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), β-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.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/5.5.705