Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25
Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1)...
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| Veröffentlicht in: | Circulation (New York, N.Y.) N.Y.), 2003-07, Vol.107 (25), p.3184-3190 |
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| container_title | Circulation (New York, N.Y.) |
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| creator | HASHAM, Sumera N WILLING, Marcia C GUO, Dong-Chuan MUILENBURG, Ann RUMIN HE TRAN, Van T SCHERER, Steven E SHETE, Sanjay S MILEWICZ, Dianna M |
| description | Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1) and 11q23.2-q24 (FAA1). Further genetic heterogeneity for the condition was evident by the presence of TAAD in some families not linked to these known loci.
A 4-generation family with dominant mode of inheritance of TAAD was studied. Affected status was determined by dilation of the ascending aorta, surgical repair of an aneurysm or dissection, or death as the result of aortic dissection. None of the family members evaluated met the diagnostic criteria for Marfan syndrome. After exclusion of known loci for familial TAAD, a genome-wide scan was carried out to map the defective gene causing the disease in the family. A locus was mapped to a 25-cM region on 3p24-25 with a maximum multipoint logarithm of the odds score of 4.28.
A third locus for nonsyndromic TAAD was mapped to 3p24-25 and termed the TAAD2 locus. This locus overlaps a previously mapped second locus for Marfan syndrome, termed the MFS2 locus. Future characterization of the TAAD2 gene will determine if TAAD2 is allelic to MFS2. In addition, identification of the TAAD2 gene will improve the presymptomatic diagnosis of individuals with this life-threatening genetic syndrome and provide information concerning the pathogenesis of the disease. |
| doi_str_mv | 10.1161/01.CIR.0000078634.33124.95 |
| format | Article |
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A 4-generation family with dominant mode of inheritance of TAAD was studied. Affected status was determined by dilation of the ascending aorta, surgical repair of an aneurysm or dissection, or death as the result of aortic dissection. None of the family members evaluated met the diagnostic criteria for Marfan syndrome. After exclusion of known loci for familial TAAD, a genome-wide scan was carried out to map the defective gene causing the disease in the family. A locus was mapped to a 25-cM region on 3p24-25 with a maximum multipoint logarithm of the odds score of 4.28.
A third locus for nonsyndromic TAAD was mapped to 3p24-25 and termed the TAAD2 locus. This locus overlaps a previously mapped second locus for Marfan syndrome, termed the MFS2 locus. Future characterization of the TAAD2 gene will determine if TAAD2 is allelic to MFS2. In addition, identification of the TAAD2 gene will improve the presymptomatic diagnosis of individuals with this life-threatening genetic syndrome and provide information concerning the pathogenesis of the disease.</description><identifier>ISSN: 0009-7322</identifier><identifier>EISSN: 1524-4539</identifier><identifier>DOI: 10.1161/01.CIR.0000078634.33124.95</identifier><identifier>PMID: 12821554</identifier><identifier>CODEN: CIRCAZ</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Adolescent ; Adult ; Aneurysm, Dissecting - diagnosis ; Aneurysm, Dissecting - epidemiology ; Aneurysm, Dissecting - genetics ; Aortic Aneurysm, Thoracic - diagnosis ; Aortic Aneurysm, Thoracic - epidemiology ; Aortic Aneurysm, Thoracic - genetics ; Biological and medical sciences ; Blood and lymphatic vessels ; Calcium-Binding Proteins - genetics ; Cardiology. Vascular system ; Child ; Chromosome Mapping ; Chromosomes, Human, Pair 3 - genetics ; Comorbidity ; Diseases of the aorta ; DNA Mutational Analysis ; Echocardiography ; Extracellular Matrix Proteins - genetics ; Female ; Genes, Dominant ; Genetic Linkage ; Genetic Markers ; Genotype ; Germany - epidemiology ; Haplotypes ; Humans ; Lod Score ; Male ; Marfan Syndrome - epidemiology ; Marfan Syndrome - genetics ; Medical sciences ; Middle Aged ; Pedigree ; Penetrance ; Switzerland - epidemiology</subject><ispartof>Circulation (New York, N.Y.), 2003-07, Vol.107 (25), p.3184-3190</ispartof><rights>2003 INIST-CNRS</rights><rights>Copyright American Heart Association, Inc. Jul 1 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c533t-3604810bfb0483eb4105db74cd79a022c7ac56d3ca619f12a2cde6689db16f7b3</citedby><cites>FETCH-LOGICAL-c533t-3604810bfb0483eb4105db74cd79a022c7ac56d3ca619f12a2cde6689db16f7b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,778,782,3676,27907,27908</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14942382$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12821554$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HASHAM, Sumera N</creatorcontrib><creatorcontrib>WILLING, Marcia C</creatorcontrib><creatorcontrib>GUO, Dong-Chuan</creatorcontrib><creatorcontrib>MUILENBURG, Ann</creatorcontrib><creatorcontrib>RUMIN HE</creatorcontrib><creatorcontrib>TRAN, Van T</creatorcontrib><creatorcontrib>SCHERER, Steven E</creatorcontrib><creatorcontrib>SHETE, Sanjay S</creatorcontrib><creatorcontrib>MILEWICZ, Dianna M</creatorcontrib><title>Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25</title><title>Circulation (New York, N.Y.)</title><addtitle>Circulation</addtitle><description>Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1) and 11q23.2-q24 (FAA1). Further genetic heterogeneity for the condition was evident by the presence of TAAD in some families not linked to these known loci.
A 4-generation family with dominant mode of inheritance of TAAD was studied. Affected status was determined by dilation of the ascending aorta, surgical repair of an aneurysm or dissection, or death as the result of aortic dissection. None of the family members evaluated met the diagnostic criteria for Marfan syndrome. After exclusion of known loci for familial TAAD, a genome-wide scan was carried out to map the defective gene causing the disease in the family. A locus was mapped to a 25-cM region on 3p24-25 with a maximum multipoint logarithm of the odds score of 4.28.
A third locus for nonsyndromic TAAD was mapped to 3p24-25 and termed the TAAD2 locus. This locus overlaps a previously mapped second locus for Marfan syndrome, termed the MFS2 locus. Future characterization of the TAAD2 gene will determine if TAAD2 is allelic to MFS2. In addition, identification of the TAAD2 gene will improve the presymptomatic diagnosis of individuals with this life-threatening genetic syndrome and provide information concerning the pathogenesis of the disease.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aneurysm, Dissecting - diagnosis</subject><subject>Aneurysm, Dissecting - epidemiology</subject><subject>Aneurysm, Dissecting - genetics</subject><subject>Aortic Aneurysm, Thoracic - diagnosis</subject><subject>Aortic Aneurysm, Thoracic - epidemiology</subject><subject>Aortic Aneurysm, Thoracic - genetics</subject><subject>Biological and medical sciences</subject><subject>Blood and lymphatic vessels</subject><subject>Calcium-Binding Proteins - genetics</subject><subject>Cardiology. Vascular system</subject><subject>Child</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 3 - genetics</subject><subject>Comorbidity</subject><subject>Diseases of the aorta</subject><subject>DNA Mutational Analysis</subject><subject>Echocardiography</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Genotype</subject><subject>Germany - epidemiology</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>Marfan Syndrome - epidemiology</subject><subject>Marfan Syndrome - genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Penetrance</subject><subject>Switzerland - epidemiology</subject><issn>0009-7322</issn><issn>1524-4539</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkF2L1DAUhoMo7jj6FyQsKHrRmnPy0ca7YdwvWFmQ9cKrkKapdmmbmrQX--834w4MmJs3Ic9JXh5CzoGVAAq-MCj3Nz9KdlhVrbgoOQcUpZYvyAYkikJIrl-STb7XRcURz8iblB7yUfFKviZngDWClGJDfn2389xPv6mlQ3Brol2ItLNjP_R2oMufEK3rHbUhLoeY_Bof05jyrqVtn5J3Sx-mRD_d73bf8DNdAuVzboDyLXnV2SH5d8fckp-XF_f76-L27upmv7stnOR8KbhiogbWdE1O7hsBTLZNJVxbacsQXWWdVC13VoHuAC261itV67YB1VUN35KPz-_OMfxdfVrM2CfnhyGXDWsyFReIumYZPP8PfAhrnHI3g4AZg6xtS74-Qy6GlKLvzBz70cZHA8wc7BsGJts3J_vmn32jD8Pvjz-szejb0-hRdwY-HAGbnB26aCfXpxMntEBeI38CCvCK5g</recordid><startdate>20030701</startdate><enddate>20030701</enddate><creator>HASHAM, Sumera N</creator><creator>WILLING, Marcia C</creator><creator>GUO, Dong-Chuan</creator><creator>MUILENBURG, Ann</creator><creator>RUMIN HE</creator><creator>TRAN, Van T</creator><creator>SCHERER, Steven E</creator><creator>SHETE, Sanjay S</creator><creator>MILEWICZ, Dianna M</creator><general>Lippincott Williams & Wilkins</general><general>American Heart Association, Inc</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>K9.</scope><scope>NAPCQ</scope><scope>U9A</scope><scope>7X8</scope></search><sort><creationdate>20030701</creationdate><title>Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25</title><author>HASHAM, Sumera N ; WILLING, Marcia C ; GUO, Dong-Chuan ; MUILENBURG, Ann ; RUMIN HE ; TRAN, Van T ; SCHERER, Steven E ; SHETE, Sanjay S ; MILEWICZ, Dianna M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c533t-3604810bfb0483eb4105db74cd79a022c7ac56d3ca619f12a2cde6689db16f7b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aneurysm, Dissecting - diagnosis</topic><topic>Aneurysm, Dissecting - epidemiology</topic><topic>Aneurysm, Dissecting - genetics</topic><topic>Aortic Aneurysm, Thoracic - diagnosis</topic><topic>Aortic Aneurysm, Thoracic - epidemiology</topic><topic>Aortic Aneurysm, Thoracic - genetics</topic><topic>Biological and medical sciences</topic><topic>Blood and lymphatic vessels</topic><topic>Calcium-Binding Proteins - genetics</topic><topic>Cardiology. Vascular system</topic><topic>Child</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 3 - genetics</topic><topic>Comorbidity</topic><topic>Diseases of the aorta</topic><topic>DNA Mutational Analysis</topic><topic>Echocardiography</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Female</topic><topic>Genes, Dominant</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Genotype</topic><topic>Germany - epidemiology</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>Marfan Syndrome - epidemiology</topic><topic>Marfan Syndrome - genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Penetrance</topic><topic>Switzerland - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HASHAM, Sumera N</creatorcontrib><creatorcontrib>WILLING, Marcia C</creatorcontrib><creatorcontrib>GUO, Dong-Chuan</creatorcontrib><creatorcontrib>MUILENBURG, Ann</creatorcontrib><creatorcontrib>RUMIN HE</creatorcontrib><creatorcontrib>TRAN, Van T</creatorcontrib><creatorcontrib>SCHERER, Steven E</creatorcontrib><creatorcontrib>SHETE, Sanjay S</creatorcontrib><creatorcontrib>MILEWICZ, Dianna 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>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Circulation (New York, N.Y.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>HASHAM, Sumera N</au><au>WILLING, Marcia C</au><au>GUO, Dong-Chuan</au><au>MUILENBURG, Ann</au><au>RUMIN HE</au><au>TRAN, Van T</au><au>SCHERER, Steven E</au><au>SHETE, Sanjay S</au><au>MILEWICZ, Dianna M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25</atitle><jtitle>Circulation (New York, N.Y.)</jtitle><addtitle>Circulation</addtitle><date>2003-07-01</date><risdate>2003</risdate><volume>107</volume><issue>25</issue><spage>3184</spage><epage>3190</epage><pages>3184-3190</pages><issn>0009-7322</issn><eissn>1524-4539</eissn><coden>CIRCAZ</coden><abstract>Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1) and 11q23.2-q24 (FAA1). Further genetic heterogeneity for the condition was evident by the presence of TAAD in some families not linked to these known loci.
A 4-generation family with dominant mode of inheritance of TAAD was studied. Affected status was determined by dilation of the ascending aorta, surgical repair of an aneurysm or dissection, or death as the result of aortic dissection. None of the family members evaluated met the diagnostic criteria for Marfan syndrome. After exclusion of known loci for familial TAAD, a genome-wide scan was carried out to map the defective gene causing the disease in the family. A locus was mapped to a 25-cM region on 3p24-25 with a maximum multipoint logarithm of the odds score of 4.28.
A third locus for nonsyndromic TAAD was mapped to 3p24-25 and termed the TAAD2 locus. This locus overlaps a previously mapped second locus for Marfan syndrome, termed the MFS2 locus. Future characterization of the TAAD2 gene will determine if TAAD2 is allelic to MFS2. In addition, identification of the TAAD2 gene will improve the presymptomatic diagnosis of individuals with this life-threatening genetic syndrome and provide information concerning the pathogenesis of the disease.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>12821554</pmid><doi>10.1161/01.CIR.0000078634.33124.95</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aneurysm, Dissecting - diagnosis Aneurysm, Dissecting - epidemiology Aneurysm, Dissecting - genetics Aortic Aneurysm, Thoracic - diagnosis Aortic Aneurysm, Thoracic - epidemiology Aortic Aneurysm, Thoracic - genetics Biological and medical sciences Blood and lymphatic vessels Calcium-Binding Proteins - genetics Cardiology. Vascular system Child Chromosome Mapping Chromosomes, Human, Pair 3 - genetics Comorbidity Diseases of the aorta DNA Mutational Analysis Echocardiography Extracellular Matrix Proteins - genetics Female Genes, Dominant Genetic Linkage Genetic Markers Genotype Germany - epidemiology Haplotypes Humans Lod Score Male Marfan Syndrome - epidemiology Marfan Syndrome - genetics Medical sciences Middle Aged Pedigree Penetrance Switzerland - epidemiology |
| title | Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25 |
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