{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:03Z","timestamp":1760764203490,"version":"build-2065373602"},"reference-count":24,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:p>Marfan syndrome consists of a group of dominantly inherited disorders of connective tissue with wide clinical variability. Using the candidate gene approach, we have attempted to map the gene defect in a large French Marfan syndrome family with no ocular manifestations. We performed linkage studies with polymorphic probes for five structural procollagen genes. The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. These results confirm previously published data obtained from smaller pedigrees. A small positive lod score (Z = 0.99, theta = 0.00) was obtained for the COL3A1-COL5A2 gene cluster located on chromosome 2.<\/jats:p>","DOI":"10.1136\/jmg.27.2.78","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"78-81","source":"Crossref","is-referenced-by-count":14,"title":["Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family."],"prefix":"10.1136","volume":"27","author":[{"given":"C","family":"Boileau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Jondeau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Bonaiti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Coulon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Delorme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J P","family":"Bourdarias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Junien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,2,1]]},"reference":[{"key":"ref_1","unstructured":"Francomano et a13 reported five out of 12 pedigrees without ectopia lentis. Among them, exclusion (Z=-oo, 0=0 00) of the three loci tested (COLIA2, COL2AI, and COL3AI) was obtained in only one family.","article-title":"Francomano et a13 reported five out of 12 pedigrees without ectopia lentis. Among them, exclusion (Z=-oo, 0=0 00) of the three loci tested (COLIA2, COL2AI, and COL3AI) was obtained in only one family"},{"key":"ref_2","unstructured":"Of the families studied by Ogilvie et al,20 only two did not have ocular involvement. Neither of the type I procollagen genes could be clearly excluded in the two families. No data concerning linkage between MS and COL2A I or COL3A2 were reported. Our results, obtained in a single large pedigree, confirm the exclusion data for collagens type I and II.","article-title":"Of the families studied by Ogilvie et al,20 only two did not have ocular involvement. Neither of the type I procollagen genes could be clearly excluded in the two families. No data concerning linkage between MS and COL2A I or COL3A2 were reported. Our results, obtained in a single large pedigree, confirm the exclusion data for collagens type I and II"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1161\/01.CIR.11.3.321","article-title":"The cardiovascular aspects ofMarfan's syndrome: a heritable disorder of connective tissue","volume":"11","author":"McKusick, V.A.","year":"1955","unstructured":"McKusick VA. The cardiovascular aspects ofMarfan's syndrome: a heritable disorder of connective tissue. Circulation 1955;11: 321-42.","journal-title":"Circulation"},{"key":"ref_4","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1988","unstructured":"McKusick VA. Mendelian inheritance in man. 8th ed. Baltimore: Johns Hopkins University Press, 1988.","edition":"8th ed"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1002\/ajmg.1320290233","article-title":"Marfan syndrome: exclusion of genetic linkage to three major collagen genes","volume":"29","author":"Francomano, C.; Streeten, E.; Meyers, D.; Pyeritz, R.","year":"1988","unstructured":"Francomano C, Streeten E, Meyers D, Pyeritz R. Marfan syndrome: exclusion of genetic linkage to three major collagen genes. Am J Med Genet 1988;29:457-62.","journal-title":"Am J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1056\/NEJM197904053001406","article-title":"The Marfan syndrome: diagnosis and management","volume":"300","author":"Pyeritz, A.E.; McKusick, V.A.","year":"1979","unstructured":"Pyeritz AE, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl 7 Med 1979;300:772-7.","journal-title":"N Engl 7 Med"},{"issue":"115","key":"ref_7","first-page":"842","article-title":"Clinical significance of the echocardiographic degree of mitral valve prolapse","volume":"1988","author":"Labowitz, A.; Pearson, A.; McCluskey, M.; Williams, G.","unstructured":"Labowitz A, Pearson A, McCluskey M, Williams G. Clinical significance of the echocardiographic degree of mitral valve prolapse. Am HeartJ7 1988;115:842-8.","journal-title":"Am HeartJ7"},{"key":"ref_8","first-page":"497","article-title":"Normal cross-sectional echocardiographic measurements in adults. In: Crosssectional echocardiography","volume":"1988","author":"Weyman, A.E.","unstructured":"Weyman AE. Normal cross-sectional echocardiographic measurements in adults. In: Crosssectional echocardiography. Philadelphia: Lea and Febiger, 1988:497-508.","journal-title":"Philadelphia: Lea and Febiger"},{"key":"ref_9","first-page":"760","article-title":"The genes coding for Aa-, Be, and y-chains of fibrinogen map to 4q","volume":"36","author":"Henry, I.; Uzan, G.; Nicolas, H.","year":"1984","unstructured":"Henry I, Uzan G, Nicolas H, et al. The genes coding for Aa-, Be, and y-chains of fibrinogen map to 4q. Am J Hum Genet 1984;36:760-8.","journal-title":"Am J Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","article-title":"A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity","volume":"132","author":"Feinberg, A.; Vogelstein, B.","year":"1983","unstructured":"Feinberg A, Vogelstein B. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.","journal-title":"Anal Biochem"},{"key":"ref_11","first-page":"69","article-title":"Osteogenesis imperfecta is linked to both type I collagen structural genes","volume":"ii:","author":"Sykes, B.; Wordsworth, P.; Ogilvie, D.; Anderson, J.; Jones, N.","year":"1986","unstructured":"Sykes B, Wordsworth P, Ogilvie D, Anderson J, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet 1986;ii:69-72.","journal-title":"Lancet"},{"key":"ref_12","first-page":"1745","article-title":"Detection of a high frequency RsaI polymorphism in the human pro-alpha-2 (I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta","volume":"7","author":"Grobler-Rabie, A.; Wallis, G.; Brebner, D.; Beighton, P.; Bester, A.; Mathew, C.","year":"1985","unstructured":"Grobler-Rabie A, Wallis G, Brebner D, Beighton P, Bester A, Mathew C. Detection of a high frequency RsaI polymorphism in the human pro-alpha-2 (I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBOJ 1985;7: 1745-8.","journal-title":"EMBOJ"},{"key":"ref_13","first-page":"719","article-title":"Analysis of three restriction fragment length polymorphisms in the human type II procollagen gene","volume":"37","author":"Eng, C.; Strom, C.","year":"1985","unstructured":"Eng C, Strom C. Analysis of three restriction fragment length polymorphisms in the human type II procollagen gene. Am J Hum Genet 1985;37:719-32.","journal-title":"Am J Hum Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"4609","DOI":"10.1093\/nar\/13.12.4609","article-title":"An RFLP associated with the human type III collagen gene (COL3A1)","volume":"13","author":"Dalgleish, R.; Woodhouse, M.; Reeders, S.","year":"1985","unstructured":"Dalgleish R, Woodhouse M, Reeders S. An RFLP associated with the human type III collagen gene (COL3A1). Nucleic Acids Res 1985;13:4609.","journal-title":"Nucleic Acids Res"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"5225","DOI":"10.1093\/nar\/16.11.5225","article-title":"An RFLP in the gene for the human pro-alpha 2 chain of type V collagen (COLSA2)","volume":"16","author":"Schwartz, R.; Lidell, A.; Ramirez, F.; Tsipouras, P.","year":"1988","unstructured":"Schwartz R, Lidell A, Ramirez F, Tsipouras P. An RFLP in the gene for the human pro-alpha 2 chain of type V collagen (COLSA2). Nucleic Acids Res 1988;16:5225.","journal-title":"Nucleic Acids Res"},{"key":"ref_16","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1984","unstructured":"Lathrop G, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81: 3443-6."},{"key":"ref_17","first-page":"3385","article-title":"Human atl(III) and a2(V) procollagen genes are located on the long arm","volume-title":"of chromosome 2. Proc Natl Acad Sci","volume":"82","author":"Emanuel, B.S.; Cannizzari, L.A.; Seyers, J.M.; Meyers, J.C.","year":"1985","unstructured":"Emanuel BS, Cannizzari LA, Seyers JM, Meyers JC. Human atl(III) and a2(V) procollagen genes are located on the long arm of chromosome 2. Proc Natl Acad Sci USA 1985;82:3385-9."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/BF00292666","article-title":"The proct2(V) collagen gene (COL5A2) maps to 2ql4--2q32, syntenic to the proctl(III) collagen locus (COL3AI)","volume":"73","author":"Huerre-Jeanpierre, C.; Henry, I.; Bernard, M.","year":"1986","unstructured":"Huerre-Jeanpierre C, Henry I, Bernard M, et al. The proct2(V) collagen gene (COL5A2) maps to 2ql4--2q32, syntenic to the proctl(III) collagen locus (COL3AI). Hum Genet 1986;73:64-7.","journal-title":"Hum Genet"},{"key":"ref_19","first-page":"275","article-title":"Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A'2, located on the long arm of human chromosome 2","volume-title":"Genomics","volume":"3","author":"Tsipouras, P.; Schwartz, R.; Lidell, A.; Scott Salkeld, C.; Weil, D.; Ramirez, F.","year":"1988","unstructured":"Tsipouras P, Schwartz R, Lidell A, Scott Salkeld C, Weil D, Ramirez F. Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A'2, located on the long arm of human chromosome 2. Genomics 1988;3:275-7."},{"key":"ref_20","first-page":"428","article-title":"Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene","volume":"30","author":"Tsipouras, P.; Borresen, A.L.; Bamforth, S.; Harper, P.; Berg, K.","year":"1986","unstructured":"Tsipouras P, Borresen AL, Bamforth S, Harper P, Berg K. Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet 1986;30:428-32.","journal-title":"Clin Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jmg.24.3.148","article-title":"Exclusion of the a2(I) and al(III) collagen genes as the mutant loci in a Marfan syndrome family","volume":"24","author":"Dalgleish, R.; Hawkins, J.; Keston, M.","year":"1987","unstructured":"Dalgleish R, Hawkins J, Keston M. Exclusion of the a2(I) and al(III) collagen genes as the mutant loci in a Marfan syndrome family. J Med Genet 1987;24:148-51.","journal-title":"J Med Genet"},{"key":"ref_22","first-page":"1071","article-title":"Segregation of all four major fibrillar collagen genes in the Marfan syndrome","volume":"41","author":"Ogilvie, D.; Wordsworth, B.; Priestley, L.","year":"1987","unstructured":"Ogilvie D, Wordsworth B, Priestley L, et al. Segregation of all four major fibrillar collagen genes in the Marfan syndrome. Am J Hum Genet 1987;41:1071-82.","journal-title":"Am J Hum Genet"},{"key":"ref_23","first-page":"237","article-title":"Perinatal lethal osteogenesis imperfecta (01 type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen","volume":"42","author":"Byers, P.; Tsipouras, P.; Bonadio, J.; Starman, B.; Schwartz, R.","year":"1988","unstructured":"Byers P, Tsipouras P, Bonadio J, Starman B, Schwartz R. Perinatal lethal osteogenesis imperfecta (01 type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 1988;42: 237-48.","journal-title":"Am J Hum Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/BF00284038","article-title":"Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV","volume":"82","author":"Superti-Furga, A.; Steinmann, B.; Ramirez, F.; Byers, P.","year":"1989","unstructured":"Superti-Furga A, Steinmann B, Ramirez F, Byers P. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Hum Genet 1989;82:104-9.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.2.78","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:53:01Z","timestamp":1760763181000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.2.78"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,2]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1990,2,1]]},"published-print":{"date-parts":[[1990,2]]}},"alternative-id":["10.1136\/jmg.27.2.78"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.2.78","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1990,2]]}}}