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We have investigated this hypothesis by performing linkage studies in 12 multiplex families with the Marfan syndrome, using restriction fragment length polymorphisms (RFLP's) associated with 3 genes encoding chains of fibrillar collagens. The data exclude linkage to all 3 candidate genes in 2 families and at least 1 of the candidates is excluded in 6 additional families. Each candidate was excluded in at least 3 families. In no case was strong evidence in favor of linkage of the Marfan syndrome to any of the 3 genes observed. These data speak against the hypothesis that mutations in one or more of these 3 fibrillar collagens cause the classic Marfan syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320290233","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:12:18Z","timestamp":1118545938000},"page":"457-462","source":"Crossref","is-referenced-by-count":18,"title":["Marfan Syndrome: Exclusion of genetic linkage to three major collagen genes"],"prefix":"10.1002","volume":"29","author":[{"given":"Clair A.","family":"Francomano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Streeten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah A.","family":"Meyers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reed E.","family":"Pyeritz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"BeightonP de PaepeA DanksD FinidoriG Gedde\u2010DahlT GoodmanR HallJG HollisterDW HortonW McKusickVA OpitzJM ThompsonE TsipourasP ViljoenD WinshipI YoungI(1987): International nosology of heritable disorders of connective tissue.Am J Med Genet in press."},{"key":"e_1_2_1_3_1","first-page":"314","article-title":"Construction of a genetic linkage map in man using restriction fragment length polymorphisms","volume":"32","author":"Botstein D","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198110223051705"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.12.7745"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","unstructured":"DalgleishR HawkinsJR KestonM(1987): Exclusion of the a2(I) and al(III) collagen genes as the mutant loci in a Marfan syndrome family.J Med Genet in press.","DOI":"10.1136\/jmg.24.3.148"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.12.4609"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.me.37.020186.002113"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198604243141702"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112493"},{"key":"e_1_2_1_11_1","first-page":"211A","article-title":"Marfan syndrome: Abnormality of the microfibrillar fiber array. 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