{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:07:50Z","timestamp":1791331670584,"version":"4.3.1"},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"20","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2001,5,22]]},"abstract":"<jats:p>\n            <jats:italic>Background<\/jats:italic>\n            \u2014Aortic aneurysms cause significant mortality, and &gt;20% relate to hereditary disorders. Familial aortic aneurysm (FAA) has been described in such conditions as the Marfan and Ehlers-Danlos type IV syndromes, due to defects in the\n            <jats:italic>fibrillin-1<\/jats:italic>\n            and\n            <jats:italic>type III procollagen<\/jats:italic>\n            genes, respectively. Other gene defects that cause isolated aneurysms, however, have not thus far been described.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Methods and Results<\/jats:italic>\n            \u2014We studied 3 families affected by FAA. No family met the diagnostic criteria for either Marfan or Ehlers-Danlos syndrome. Echocardiography defined involvement of both the thoracic and abdominal aorta. In family ANA, candidate gene analysis excluded linkage to loci associated with aneurysm formation, including\n            <jats:italic>fibrillin-1<\/jats:italic>\n            ,\n            <jats:italic>fibrillin-2<\/jats:italic>\n            , and\n            <jats:italic>type III procollagen<\/jats:italic>\n            , and chromosome 3p24.2-p25. Genome-wide linkage analysis identified a 2.3-cM FAA locus (\n            <jats:italic>FAA1<\/jats:italic>\n            ) on chromosome 11q23.3-q24 with a maximum multipoint logarithm of the odds score of 4.4. In family ANB, FAA was linked to\n            <jats:italic>fibrillin-1<\/jats:italic>\n            . In family ANF, however, FAA was not linked to any locus previously associated with aneurysm formation, including\n            <jats:italic>fibrillin-1<\/jats:italic>\n            and\n            <jats:italic>FAA1<\/jats:italic>\n            .\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Conclusions<\/jats:italic>\n            \u2014FAA disease is genetically heterogeneous. We have identified a novel FAA locus at chromosome 11q23.3-q24, a critical step toward elucidating 1 gene defect responsible for aortic dilatation. Future characterization of the\n            <jats:italic>FAA1<\/jats:italic>\n            gene will enhance our ability to achieve presymptomatic diagnosis of aortic aneurysms and will define molecular mechanisms to target therapeutics.\n          <\/jats:p>","DOI":"10.1161\/01.cir.103.20.2469","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T00:09:32Z","timestamp":1339459772000},"page":"2469-2475","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":136,"title":["Identification of a Chromosome 11q23.2-q24 Locus for Familial Aortic Aneurysm Disease, a Genetically Heterogeneous Disorder"],"prefix":"10.1161","volume":"103","author":[{"given":"Carl J.","family":"Vaughan","sequence":"first","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mairead","family":"Casey","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"He","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Veugelers","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiersten","family":"Henderson","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongchuan","family":"Guo","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Campagna","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary J.","family":"Roman","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard B.","family":"Devereux","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig T.","family":"Basson","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, The New York Presbyterian Hospital (C.J.V., M.C., J.H., M.V., R.C., M.J.R., R.B.D., C.T.B.), and the Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University (K.H., C.T.B.), New York, NY; and the Department of Internal Medicine, University of Texas\u2013Houston Medical School, Houston, Tex (D.G., D.M.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115452"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0741-5214(95)70196-6"},{"key":"e_1_3_2_3_2","first-page":"650","volume":"95","year":"1984","unstructured":"Norrgard O, Rais O, Angquist KA. Familial occurrence of abdominal aortic aneurysms. Surgery. 1984;95:650\u2013656.","journal-title":"Surgery"},{"key":"e_1_3_2_4_2","unstructured":"Online Mendelian Inheritance in Man OMIM (TM). Center for Medical Genetics Johns Hopkins University (Baltimore Md) and National Center for Biotechnology Information National Library of Medicine (Bethesda Md). World Wide Web URL: http:\/\/www.ncbi.nlm.nih.gov\/omim\/ 1996."},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116490"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199407213310302"},{"key":"e_1_3_2_7_2","first-page":"1287","volume":"56","year":"1995","unstructured":"Francke U, Berg MA, Tynan K, et al. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet. 1995;56:1287\u20131296.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.94.11.2708"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-264"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-456"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(98)00364-6"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/302144"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(89)90430-X"},{"key":"e_1_3_2_14_2","first-page":"691","volume":"114","year":"1993","unstructured":"Pearce WH, Slaughter MS, LeMaire S, et al. Aortic diameter as a function of age, gender, and body surface area. Surgery. 1993;114:691\u2013697.","journal-title":"Surgery"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_3_2_17_2","first-page":"885","volume":"300","year":"1994","unstructured":"Basson CT, Cowley GS, Solomon SD, et al. The clinical and genetic spectrum of Holt-Oram syndrome. N Engl J Med. 1994;300:885\u2013891.","journal-title":"N Engl J Med"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/302011"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/380152a0"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_3_2_21_2","unstructured":"Ott J. Analysis of Human Genetic Linkage. Baltimore Md: Johns Hopkins University Press; 1991."},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.22.13460"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.13.5181"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10841"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.20.2461"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.95.1.205"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.9.1.44"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5267"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.101.11.1227"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1242"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1981.01380200038007"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.134.4.361"},{"key":"e_1_3_2_33_2","first-page":"676","volume":"56","year":"1995","unstructured":"Jones OW, Evans GA. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet. 1995;56:676\u2013683.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130312"},{"key":"e_1_3_2_35_2","first-page":"676","volume":"56","year":"1995","unstructured":"Penny LA, Dell\u2019Aquila M, Jones MC, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet. 1995;56:676\u2013683.","journal-title":"Am J Hum Genet"}],"container-title":["Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/01.CIR.103.20.2469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T08:11:12Z","timestamp":1738829472000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/01.CIR.103.20.2469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5,22]]},"references-count":35,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2001,5,22]]}},"alternative-id":["10.1161\/01.CIR.103.20.2469"],"URL":"https:\/\/doi.org\/10.1161\/01.cir.103.20.2469","relation":{},"ISSN":["0009-7322","1524-4539"],"issn-type":[{"value":"0009-7322","type":"print"},{"value":"1524-4539","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,5,22]]},"assertion":[{"value":"2000-11-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2001-02-08","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2001-03-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2001-05-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}