A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15
Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 2000-12, Vol.67 (6), p.1592-1597 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1597 |
|---|---|
| container_issue | 6 |
| container_start_page | 1592 |
| container_title | American journal of human genetics |
| container_volume | 67 |
| creator | Morlé, L. Bozon, M. Zech, J.-C. Alloisio, N. Raas-Rothschild, A. Philippe, C. Lambert, J.-C. Godet, J. Plauchu, H. Edery, P. |
| description | Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040. |
| doi_str_mv | 10.1086/316894 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1287937</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002929707632303</els_id><sourcerecordid>72416270</sourcerecordid><originalsourceid>FETCH-LOGICAL-c497t-1f566c5b0e01e89b24073a5836d9790aaca685ebedc3a57f56b328000ca53d9d3</originalsourceid><addsrcrecordid>eNpdkdtqGzEQhkVoaNykeYQgKPRuWx2s003BOD0EHHKTkEsxq9XWKrsrW5IDefvK2CRprwZmvvln5h-ELin5QomWXzmV2sxP0IwKrhopiXiHZoQQ1hhm1Bn6kPMfQijVhL9HZ5QSLiTnM_S4wKvodhn3MeHFrsQcRxjwdRzDBFPByzjEtqZKrMxtcClu1mUNwxgA38Im4xLxcp3iuG_0mIotZc2Wigt02sOQ_cdjPEcPP77fL381q7ufN8vFqnFzo0pDeyGlEy3xhHptWjYnioPQXHZGGQLgQGrhW9-5mlaVbjnT9S4Hgnem4-fo20F3s2vHSvmpJBjsJoUR0rONEOy_lSms7e_4ZCnTynBVBT4fBVLc7nwudgzZ-WGAydebrWJzKpkir2D1IOfk-5chlNj9D-zhBxW8ervSK3Y0vQKfjgBkB0OfYHIhv3CaCUX3MuRA-WrfU_DJZhf85HwXknfFdjH8P_kvjQSdfQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>72416270</pqid></control><display><type>article</type><title>A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15</title><source>MEDLINE</source><source>Cell Press Free Archives</source><source>Access via ScienceDirect (Elsevier)</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Morlé, L. ; Bozon, M. ; Zech, J.-C. ; Alloisio, N. ; Raas-Rothschild, A. ; Philippe, C. ; Lambert, J.-C. ; Godet, J. ; Plauchu, H. ; Edery, P.</creator><creatorcontrib>Morlé, L. ; Bozon, M. ; Zech, J.-C. ; Alloisio, N. ; Raas-Rothschild, A. ; Philippe, C. ; Lambert, J.-C. ; Godet, J. ; Plauchu, H. ; Edery, P.</creatorcontrib><description>Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/316894</identifier><identifier>PMID: 11035633</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 15 - genetics ; Coloboma - complications ; Coloboma - genetics ; Female ; Genes, Dominant - genetics ; Genetic Linkage - genetics ; Haplotypes - genetics ; Humans ; Jews - genetics ; Lod Score ; Male ; Malformations of the eye ; Medical sciences ; Microphthalmos - complications ; Microphthalmos - genetics ; Microsatellite Repeats - genetics ; Ophthalmology ; Pedigree ; Penetrance</subject><ispartof>American journal of human genetics, 2000-12, Vol.67 (6), p.1592-1597</ispartof><rights>2000 The American Society of Human Genetics</rights><rights>2001 INIST-CNRS</rights><rights>2000 by The American Society of Human Genetics. All rights reserved. 2000</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c497t-1f566c5b0e01e89b24073a5836d9790aaca685ebedc3a57f56b328000ca53d9d3</citedby><cites>FETCH-LOGICAL-c497t-1f566c5b0e01e89b24073a5836d9790aaca685ebedc3a57f56b328000ca53d9d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287937/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/316894$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3550,27924,27925,45995,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=825714$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11035633$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Morlé, L.</creatorcontrib><creatorcontrib>Bozon, M.</creatorcontrib><creatorcontrib>Zech, J.-C.</creatorcontrib><creatorcontrib>Alloisio, N.</creatorcontrib><creatorcontrib>Raas-Rothschild, A.</creatorcontrib><creatorcontrib>Philippe, C.</creatorcontrib><creatorcontrib>Lambert, J.-C.</creatorcontrib><creatorcontrib>Godet, J.</creatorcontrib><creatorcontrib>Plauchu, H.</creatorcontrib><creatorcontrib>Edery, P.</creatorcontrib><title>A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 15 - genetics</subject><subject>Coloboma - complications</subject><subject>Coloboma - genetics</subject><subject>Female</subject><subject>Genes, Dominant - genetics</subject><subject>Genetic Linkage - genetics</subject><subject>Haplotypes - genetics</subject><subject>Humans</subject><subject>Jews - genetics</subject><subject>Lod Score</subject><subject>Male</subject><subject>Malformations of the eye</subject><subject>Medical sciences</subject><subject>Microphthalmos - complications</subject><subject>Microphthalmos - genetics</subject><subject>Microsatellite Repeats - genetics</subject><subject>Ophthalmology</subject><subject>Pedigree</subject><subject>Penetrance</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkdtqGzEQhkVoaNykeYQgKPRuWx2s003BOD0EHHKTkEsxq9XWKrsrW5IDefvK2CRprwZmvvln5h-ELin5QomWXzmV2sxP0IwKrhopiXiHZoQQ1hhm1Bn6kPMfQijVhL9HZ5QSLiTnM_S4wKvodhn3MeHFrsQcRxjwdRzDBFPByzjEtqZKrMxtcClu1mUNwxgA38Im4xLxcp3iuG_0mIotZc2Wigt02sOQ_cdjPEcPP77fL381q7ufN8vFqnFzo0pDeyGlEy3xhHptWjYnioPQXHZGGQLgQGrhW9-5mlaVbjnT9S4Hgnem4-fo20F3s2vHSvmpJBjsJoUR0rONEOy_lSms7e_4ZCnTynBVBT4fBVLc7nwudgzZ-WGAydebrWJzKpkir2D1IOfk-5chlNj9D-zhBxW8ervSK3Y0vQKfjgBkB0OfYHIhv3CaCUX3MuRA-WrfU_DJZhf85HwXknfFdjH8P_kvjQSdfQ</recordid><startdate>20001201</startdate><enddate>20001201</enddate><creator>Morlé, L.</creator><creator>Bozon, M.</creator><creator>Zech, J.-C.</creator><creator>Alloisio, N.</creator><creator>Raas-Rothschild, A.</creator><creator>Philippe, C.</creator><creator>Lambert, J.-C.</creator><creator>Godet, J.</creator><creator>Plauchu, H.</creator><creator>Edery, P.</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><general>The American Society of Human Genetics</general><scope>6I.</scope><scope>AAFTH</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>7X8</scope><scope>5PM</scope></search><sort><creationdate>20001201</creationdate><title>A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15</title><author>Morlé, L. ; Bozon, M. ; Zech, J.-C. ; Alloisio, N. ; Raas-Rothschild, A. ; Philippe, C. ; Lambert, J.-C. ; Godet, J. ; Plauchu, H. ; Edery, P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c497t-1f566c5b0e01e89b24073a5836d9790aaca685ebedc3a57f56b328000ca53d9d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 15 - genetics</topic><topic>Coloboma - complications</topic><topic>Coloboma - genetics</topic><topic>Female</topic><topic>Genes, Dominant - genetics</topic><topic>Genetic Linkage - genetics</topic><topic>Haplotypes - genetics</topic><topic>Humans</topic><topic>Jews - genetics</topic><topic>Lod Score</topic><topic>Male</topic><topic>Malformations of the eye</topic><topic>Medical sciences</topic><topic>Microphthalmos - complications</topic><topic>Microphthalmos - genetics</topic><topic>Microsatellite Repeats - genetics</topic><topic>Ophthalmology</topic><topic>Pedigree</topic><topic>Penetrance</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Morlé, L.</creatorcontrib><creatorcontrib>Bozon, M.</creatorcontrib><creatorcontrib>Zech, J.-C.</creatorcontrib><creatorcontrib>Alloisio, N.</creatorcontrib><creatorcontrib>Raas-Rothschild, A.</creatorcontrib><creatorcontrib>Philippe, C.</creatorcontrib><creatorcontrib>Lambert, J.-C.</creatorcontrib><creatorcontrib>Godet, J.</creatorcontrib><creatorcontrib>Plauchu, H.</creatorcontrib><creatorcontrib>Edery, P.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Morlé, L.</au><au>Bozon, M.</au><au>Zech, J.-C.</au><au>Alloisio, N.</au><au>Raas-Rothschild, A.</au><au>Philippe, C.</au><au>Lambert, J.-C.</au><au>Godet, J.</au><au>Plauchu, H.</au><au>Edery, P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2000-12-01</date><risdate>2000</risdate><volume>67</volume><issue>6</issue><spage>1592</spage><epage>1597</epage><pages>1592-1597</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>11035633</pmid><doi>10.1086/316894</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 2000-12, Vol.67 (6), p.1592-1597 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1287937 |
| source | MEDLINE; Cell Press Free Archives; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Adolescent Adult Biological and medical sciences Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 15 - genetics Coloboma - complications Coloboma - genetics Female Genes, Dominant - genetics Genetic Linkage - genetics Haplotypes - genetics Humans Jews - genetics Lod Score Male Malformations of the eye Medical sciences Microphthalmos - complications Microphthalmos - genetics Microsatellite Repeats - genetics Ophthalmology Pedigree Penetrance |
| title | A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-22T11%3A58%3A12IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Locus%20for%20Autosomal%20Dominant%20Colobomatous%20Microphthalmia%20Maps%20to%20Chromosome%2015q12-q15&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Morl%C3%A9,%20L.&rft.date=2000-12-01&rft.volume=67&rft.issue=6&rft.spage=1592&rft.epage=1597&rft.pages=1592-1597&rft.issn=0002-9297&rft.eissn=1537-6605&rft.coden=AJHGAG&rft_id=info:doi/10.1086/316894&rft_dat=%3Cproquest_pubme%3E72416270%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=72416270&rft_id=info:pmid/11035633&rft_els_id=S0002929707632303&rfr_iscdi=true |