caa a22 4500 39757391X CHVBK 20180308164849.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.705 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.705 Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p [Elektronische Daten] [Andrew J. Lotery, Kevin T. Ennis, Giuliana Silvestri, Suzanne Nicholl, David McGibbon, Alan D. Collins, Anne E. Hughes] 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. © 1996 Oxford University Press Lotery Andrew J. Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut Ennis Kevin T. Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut Silvestri Giuliana Department of Ophthalmology, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut Nicholl Suzanne Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut McGibbon David Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut Collins Alan D. Department of Ophthalmology, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut Hughes Anne E. Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 705-708 0964-6906 5:5<705 1996 5 hmg https://doi.org/10.1093/hmg/5.5.705 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.705 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lotery Andrew J. Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut NATIONALLICENCE 700 1- Ennis Kevin T. Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut NATIONALLICENCE 700 1- Silvestri Giuliana Department of Ophthalmology, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut NATIONALLICENCE 700 1- Nicholl Suzanne Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut NATIONALLICENCE 700 1- McGibbon David Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut NATIONALLICENCE 700 1- Collins Alan D. Department of Ophthalmology, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut NATIONALLICENCE 700 1- Hughes Anne E. Department of Medical Genetics, The Queen's University of Belfast, BT9 7AB, Northern Ireland, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 705-708 0964-6906 5:5<705 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford