A family with RP3 type of X-linked retinitis pigmentosa : an association with ciliary abnormalities
The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of a...
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| Veröffentlicht in: | Human genetics 1992, Vol.88 (3), p.331-334 |
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| container_issue | 3 |
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| container_title | Human genetics |
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| creator | VAN DORP, D. B WRIGHT, A. F CAROTHERS, A. D BLEEKER-WAGEMAKERS, E. M |
| description | The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of an RP3 locus (in Xp21.1-p11.4) was found to be 0.978 compared with 0.021 for an RP2 locus (in Xp11.4-p11.2). Risk assessment showed that 2 out of 4 "at risk" females showing no clinical abnormality have a high probability of being genetic carriers of XLRP. Some affected males have recurrent respiratory infections as a result of a condition indistinguishable from the immotile cilia syndrome; indeed, there is an association between XLRP and susceptibility to respiratory infections in the majority of affected males. The possibility that previously observed ciliary abnormalities in XLRP patients might be associated specifically with an RP3 locus abnormality is discussed. |
| doi_str_mv | 10.1007/BF00197269 |
| format | Article |
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B ; WRIGHT, A. F ; CAROTHERS, A. D ; BLEEKER-WAGEMAKERS, E. M</creator><creatorcontrib>VAN DORP, D. B ; WRIGHT, A. F ; CAROTHERS, A. D ; BLEEKER-WAGEMAKERS, E. M</creatorcontrib><description>The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of an RP3 locus (in Xp21.1-p11.4) was found to be 0.978 compared with 0.021 for an RP2 locus (in Xp11.4-p11.2). Risk assessment showed that 2 out of 4 "at risk" females showing no clinical abnormality have a high probability of being genetic carriers of XLRP. Some affected males have recurrent respiratory infections as a result of a condition indistinguishable from the immotile cilia syndrome; indeed, there is an association between XLRP and susceptibility to respiratory infections in the majority of affected males. The possibility that previously observed ciliary abnormalities in XLRP patients might be associated specifically with an RP3 locus abnormality is discussed.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00197269</identifier><identifier>PMID: 1733835</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Biological and medical sciences ; Ciliary Motility Disorders - complications ; Ciliary Motility Disorders - genetics ; Female ; Genetic Carrier Screening ; Genetic Linkage ; Humans ; Lod Score ; Male ; Medical sciences ; Ophthalmology ; Ornithine Carbamoyltransferase - genetics ; Pedigree ; Retinitis Pigmentosa - complications ; Retinitis Pigmentosa - genetics ; Retinopathies ; Risk Factors ; X Chromosome</subject><ispartof>Human genetics, 1992, Vol.88 (3), p.331-334</ispartof><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c342t-1ae682bd6f16bd974f77e32432fd935e1144da4291c0ed5ae202f653f993e6383</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,4010,27904,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5299326$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1733835$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>VAN DORP, D. B</creatorcontrib><creatorcontrib>WRIGHT, A. F</creatorcontrib><creatorcontrib>CAROTHERS, A. D</creatorcontrib><creatorcontrib>BLEEKER-WAGEMAKERS, E. M</creatorcontrib><title>A family with RP3 type of X-linked retinitis pigmentosa : an association with ciliary abnormalities</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of an RP3 locus (in Xp21.1-p11.4) was found to be 0.978 compared with 0.021 for an RP2 locus (in Xp11.4-p11.2). Risk assessment showed that 2 out of 4 "at risk" females showing no clinical abnormality have a high probability of being genetic carriers of XLRP. Some affected males have recurrent respiratory infections as a result of a condition indistinguishable from the immotile cilia syndrome; indeed, there is an association between XLRP and susceptibility to respiratory infections in the majority of affected males. The possibility that previously observed ciliary abnormalities in XLRP patients might be associated specifically with an RP3 locus abnormality is discussed.</description><subject>Biological and medical sciences</subject><subject>Ciliary Motility Disorders - complications</subject><subject>Ciliary Motility Disorders - genetics</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Ophthalmology</subject><subject>Ornithine Carbamoyltransferase - genetics</subject><subject>Pedigree</subject><subject>Retinitis Pigmentosa - complications</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>Retinopathies</subject><subject>Risk Factors</subject><subject>X Chromosome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLAzEUhYMotVY37oUsxIUwmsckadzVYlUoKKLgbshkbjQ6LydTpP_eyBS7dHUX9zsHvoPQMSUXlBB1eb0ghGrFpN5BY5pyllBG-C4aE56SRCqq9tFBCB-REpqJERpRxfmUizGyM-xM5cs1_vb9O3565Lhft4Abh1-T0tefUOAOel_73gfc-rcK6r4JBl9hU2MTQmO96X1TD3nrS2-6NTZ53XSVKWMKwiHac6YMcLS5E_SyuHme3yXLh9v7-WyZWJ6yPqEG5JTlhXRU5oVWqVMKOIs6rtBcAKVpWpiUaWoJFMIAI8xJwZ3WHGTUmaCzobftmq8VhD6rfLBQlqaGZhUyxdSUa87-BamkXAiiI3g-gLZrQujAZW3nqyiYUZL9Tp9tp4_wyaZ1lVdQbNFh6_g_3fxNsKZ0namtD3-YYNGDSf4Df_mJ4w</recordid><startdate>1992</startdate><enddate>1992</enddate><creator>VAN DORP, D. B</creator><creator>WRIGHT, A. F</creator><creator>CAROTHERS, A. D</creator><creator>BLEEKER-WAGEMAKERS, E. M</creator><general>Springer</general><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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>1992</creationdate><title>A family with RP3 type of X-linked retinitis pigmentosa : an association with ciliary abnormalities</title><author>VAN DORP, D. B ; WRIGHT, A. F ; CAROTHERS, A. D ; BLEEKER-WAGEMAKERS, E. M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c342t-1ae682bd6f16bd974f77e32432fd935e1144da4291c0ed5ae202f653f993e6383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Biological and medical sciences</topic><topic>Ciliary Motility Disorders - complications</topic><topic>Ciliary Motility Disorders - genetics</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Ophthalmology</topic><topic>Ornithine Carbamoyltransferase - genetics</topic><topic>Pedigree</topic><topic>Retinitis Pigmentosa - complications</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>Retinopathies</topic><topic>Risk Factors</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>VAN DORP, D. B</creatorcontrib><creatorcontrib>WRIGHT, A. F</creatorcontrib><creatorcontrib>CAROTHERS, A. D</creatorcontrib><creatorcontrib>BLEEKER-WAGEMAKERS, E. M</creatorcontrib><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>Human Genome Abstracts</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 genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>VAN DORP, D. B</au><au>WRIGHT, A. F</au><au>CAROTHERS, A. D</au><au>BLEEKER-WAGEMAKERS, E. M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A family with RP3 type of X-linked retinitis pigmentosa : an association with ciliary abnormalities</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1992</date><risdate>1992</risdate><volume>88</volume><issue>3</issue><spage>331</spage><epage>334</epage><pages>331-334</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of an RP3 locus (in Xp21.1-p11.4) was found to be 0.978 compared with 0.021 for an RP2 locus (in Xp11.4-p11.2). Risk assessment showed that 2 out of 4 "at risk" females showing no clinical abnormality have a high probability of being genetic carriers of XLRP. Some affected males have recurrent respiratory infections as a result of a condition indistinguishable from the immotile cilia syndrome; indeed, there is an association between XLRP and susceptibility to respiratory infections in the majority of affected males. The possibility that previously observed ciliary abnormalities in XLRP patients might be associated specifically with an RP3 locus abnormality is discussed.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>1733835</pmid><doi>10.1007/BF00197269</doi><tpages>4</tpages></addata></record> |
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| ispartof | Human genetics, 1992, Vol.88 (3), p.331-334 |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Biological and medical sciences Ciliary Motility Disorders - complications Ciliary Motility Disorders - genetics Female Genetic Carrier Screening Genetic Linkage Humans Lod Score Male Medical sciences Ophthalmology Ornithine Carbamoyltransferase - genetics Pedigree Retinitis Pigmentosa - complications Retinitis Pigmentosa - genetics Retinopathies Risk Factors X Chromosome |
| title | A family with RP3 type of X-linked retinitis pigmentosa : an association with ciliary abnormalities |
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