Portal de Periódicos da CAPES

Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p

1996; Oxford University Press; Volume: 5; Issue: 5 Linguagem: Inglês

10.1093/hmg/5.5.705

1460-2083

Andrew Lotery, K. T. Ennis, Giuliana Silvestri, Suzanne M. Nicholl, D. McGibbon, Alan David Collins, Anne E. Hughes,

Retinal Imaging and Analysis

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 Z max =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.