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- Title
Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p.
- Authors
Lotery, Andrew J.; Ennis, Kevin T.; Silvestri, Giuliana; Nicholl, Suzanne; McGibbon, David; Collins, Alan D.; Hughes, Anne E.
- 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), 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.
- Publication
Human Molecular Genetics, 1996, Vol 5, Issue 5, p705
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/5.5.705