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

Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p
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 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.
705-708
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Ennis, Kevin T.
5348b104-336e-45d0-89b4-afc6c809c293
Silvestri, Giuliana
8552d5e4-db6e-41b4-857f-967dffcd8712
Nicholl, Suzanne
210997a4-020c-406d-87d9-bfab2f9e54ee
McGibbon, David
240b75c4-7881-4b9b-9653-b4e702102768
Collins, Alan D.
70b69d7c-c875-4b9c-98ee-112388148a3f
Hughes, Anne E.
a721a41b-687e-48cb-b0c5-6fb622f0d261
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Ennis, Kevin T.
5348b104-336e-45d0-89b4-afc6c809c293
Silvestri, Giuliana
8552d5e4-db6e-41b4-857f-967dffcd8712
Nicholl, Suzanne
210997a4-020c-406d-87d9-bfab2f9e54ee
McGibbon, David
240b75c4-7881-4b9b-9653-b4e702102768
Collins, Alan D.
70b69d7c-c875-4b9c-98ee-112388148a3f
Hughes, Anne E.
a721a41b-687e-48cb-b0c5-6fb622f0d261

Lotery, Andrew J., Ennis, Kevin T., Silvestri, Giuliana, Nicholl, Suzanne, McGibbon, David, Collins, Alan D. and Hughes, Anne E. (1996) Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. Human Molecular Genetics, 5 (5), 705-708. (doi:10.1093/hmg/5.5.705). (PMID:8733141)

Record type: Article

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.

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Published date: May 1996
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 359203
URI: https://eprints.soton.ac.uk/id/eprint/359203
PURE UUID: 6db3172a-a311-4d5c-a535-4a99a7794b92
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 30 Oct 2013 12:58
Last modified: 31 Jan 2019 01:36

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Contributors

Author: Kevin T. Ennis
Author: Giuliana Silvestri
Author: Suzanne Nicholl
Author: David McGibbon
Author: Alan D. Collins
Author: Anne E. Hughes

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