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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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| Published in: | Human molecular genetics 1996-05, Vol.5 (5), p.705-708 |
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| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c419t-fad37baac552d6273f244771095eb3cdb6d5292384a10d471d999ac1582218503 |
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| container_end_page | 708 |
| container_issue | 5 |
| container_start_page | 705 |
| container_title | Human molecular genetics |
| container_volume | 5 |
| creator | Lotery, Andrew J. Ennis, Kevin T. Silvestri, Giuliana Nicholl, Suzanne McGibbon, David Collins, Alan D. Hughes, Anne E. |
| description | 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. |
| doi_str_mv | 10.1093/hmg/5.5.705 |
| format | article |
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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.</description><identifier>ISSN: 0964-6906</identifier><identifier>ISSN: 1460-2083</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/5.5.705</identifier><identifier>PMID: 8733141</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>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</subject><ispartof>Human molecular genetics, 1996-05, Vol.5 (5), p.705-708</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-fad37baac552d6273f244771095eb3cdb6d5292384a10d471d999ac1582218503</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3070972$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8733141$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lotery, Andrew J.</creatorcontrib><creatorcontrib>Ennis, Kevin T.</creatorcontrib><creatorcontrib>Silvestri, Giuliana</creatorcontrib><creatorcontrib>Nicholl, Suzanne</creatorcontrib><creatorcontrib>McGibbon, David</creatorcontrib><creatorcontrib>Collins, Alan D.</creatorcontrib><creatorcontrib>Hughes, Anne E.</creatorcontrib><title>Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p</title><title>Human molecular genetics</title><addtitle>Human Molecular Genetics</addtitle><description>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.</description><subject>Arrestins - genetics</subject><subject>Base Sequence</subject><subject>beta-Arrestin 2</subject><subject>beta-Arrestins</subject><subject>Biological and medical sciences</subject><subject>Calcium-Binding Proteins - genetics</subject><subject>Carrier Proteins - genetics</subject><subject>Choroid Diseases - genetics</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Databases, Factual</subject><subject>Eye Proteins</subject><subject>Genetic Linkage</subject><subject>Guanylate Cyclase - genetics</subject><subject>Hippocalcin</subject><subject>Humans</subject><subject>Lipoproteins</subject><subject>Medical sciences</subject><subject>Membrane Proteins</subject><subject>Microsatellite Repeats</subject><subject>Molecular Sequence Data</subject><subject>Nerve Growth Factors</subject><subject>Nerve Tissue Proteins</subject><subject>Ophthalmology</subject><subject>Pedigree</subject><subject>Phospholipid Transfer Proteins</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Proteins - genetics</subject><subject>Recoverin</subject><subject>Retina - enzymology</subject><subject>Retinopathies</subject><subject>Serpins - genetics</subject><issn>0964-6906</issn><issn>1460-2083</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><recordid>eNqFkE1Lw0AQhhdRaq2ePAs5iBdJO_udPUrVVizoQbF4WbbJxkaTbN1Nwf57V1p6lTkMM-_DwDwInWMYYlB0tGw-RnzIhxL4AepjJiAlkNFD1AclWCoUiGN0EsInABaMyh7qZZJSzHAfPc9cbuoqmK5ybeLKxCQT29qkdD4Z27bzpk5uvHW1ifPSeVcVcXO7CZ13q-Um6Vxce9e44BqbYLk6RUelqYM92_UBer2_exlP09nT5GF8M0tzhlWXlqagcmFMzjkpBJG0JIxJGf_hdkHzYiEKThShGTMYCiZxoZQyOeYZITjjQAfoant35d332oZON1XIbV2b1rp10DIjAILjf0HMRbQFNILXWzD3LgRvS73yVWP8RmPQf6J1FK15rCg60he7s-tFY4s9uzMb88tdbkI0XHrT5lXYYxQkKEkilm6xKnT2Zx8b_6WFpJLr6fxdg5y_8Wz2qMf0F1sEkuY</recordid><startdate>19960501</startdate><enddate>19960501</enddate><creator>Lotery, Andrew J.</creator><creator>Ennis, Kevin T.</creator><creator>Silvestri, Giuliana</creator><creator>Nicholl, Suzanne</creator><creator>McGibbon, David</creator><creator>Collins, Alan D.</creator><creator>Hughes, Anne E.</creator><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19960501</creationdate><title>Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p</title><author>Lotery, Andrew J. ; Ennis, Kevin T. ; Silvestri, Giuliana ; Nicholl, Suzanne ; McGibbon, David ; Collins, Alan D. ; Hughes, Anne E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-fad37baac552d6273f244771095eb3cdb6d5292384a10d471d999ac1582218503</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Arrestins - genetics</topic><topic>Base Sequence</topic><topic>beta-Arrestin 2</topic><topic>beta-Arrestins</topic><topic>Biological and medical sciences</topic><topic>Calcium-Binding Proteins - genetics</topic><topic>Carrier Proteins - genetics</topic><topic>Choroid Diseases - genetics</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Databases, Factual</topic><topic>Eye Proteins</topic><topic>Genetic Linkage</topic><topic>Guanylate Cyclase - genetics</topic><topic>Hippocalcin</topic><topic>Humans</topic><topic>Lipoproteins</topic><topic>Medical sciences</topic><topic>Membrane Proteins</topic><topic>Microsatellite Repeats</topic><topic>Molecular Sequence Data</topic><topic>Nerve Growth Factors</topic><topic>Nerve Tissue Proteins</topic><topic>Ophthalmology</topic><topic>Pedigree</topic><topic>Phospholipid Transfer Proteins</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Proteins - genetics</topic><topic>Recoverin</topic><topic>Retina - enzymology</topic><topic>Retinopathies</topic><topic>Serpins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lotery, Andrew J.</creatorcontrib><creatorcontrib>Ennis, Kevin T.</creatorcontrib><creatorcontrib>Silvestri, Giuliana</creatorcontrib><creatorcontrib>Nicholl, Suzanne</creatorcontrib><creatorcontrib>McGibbon, David</creatorcontrib><creatorcontrib>Collins, Alan D.</creatorcontrib><creatorcontrib>Hughes, Anne E.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lotery, Andrew J.</au><au>Ennis, Kevin T.</au><au>Silvestri, Giuliana</au><au>Nicholl, Suzanne</au><au>McGibbon, David</au><au>Collins, Alan D.</au><au>Hughes, Anne E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Human Molecular Genetics</addtitle><date>1996-05-01</date><risdate>1996</risdate><volume>5</volume><issue>5</issue><spage>705</spage><epage>708</epage><pages>705-708</pages><issn>0964-6906</issn><issn>1460-2083</issn><eissn>1460-2083</eissn><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.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>8733141</pmid><doi>10.1093/hmg/5.5.705</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0964-6906 |
| ispartof | Human molecular genetics, 1996-05, Vol.5 (5), p.705-708 |
| issn | 0964-6906 1460-2083 1460-2083 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_78200651 |
| source | Oxford Journals Online |
| 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 |
| title | Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p |
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