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. 1989 Mar;61(3):292–299. doi: 10.1136/hrt.61.3.292

Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse.

A M Henney 1, P Tsipouras 1, R C Schwartz 1, A H Child 1, R B Devereux 1, G J Leech 1
PMCID: PMC1216661  PMID: 2930668

Abstract

DNA markers were used to assess the segregation of genes encoding the collagen types that predominate in the mitral valve (types I, III, and V) in two family pedigrees that are phenotypically different but showed dominantly inherited mitral valve prolapse. The inheritance of these markers was compared with the segregation of the phenotype for mitral valve prolapse in both families. In one family it was shown that the COL1A1, COL1A2, COL3A1, and COL5A2 genes segregated independently of the phenotype; in the other family the results for COL1A1, COL1A2, and COL5A2 were similar but analysis at the COL3A1 locus was not possible. These data indicate that in these families mitral valve prolapse does not arise from a defect in one of these collagen genes.

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Selected References

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  1. Beighton P. H., Horan F. T. Dominant inheritance in familial generalised articular hypermobility. J Bone Joint Surg Br. 1970 Feb;52(1):145–147. [PubMed] [Google Scholar]
  2. Byers P. H., Siegel R. C., Peterson K. E., Rowe D. W., Holbrook K. A., Smith L. T., Chang Y. H., Fu J. C. Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745–7749. doi: 10.1073/pnas.78.12.7745. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cheah K. S. Collagen genes and inherited connective tissue disease. Biochem J. 1985 Jul 15;229(2):287–303. doi: 10.1042/bj2290287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cole W. G., Chan D., Hickey A. J., Wilcken D. E. Collagen composition of normal and myxomatous human mitral heart valves. Biochem J. 1984 Apr 15;219(2):451–460. doi: 10.1042/bj2190451. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Dalgleish R., Woodhouse M., Reeders S. An RFLP associated with the human type III collagen gene (COL3A1). Nucleic Acids Res. 1985 Jun 25;13(12):4609–4609. doi: 10.1093/nar/13.12.4609. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Davies K. E., Robson K. J. Molecular analysis of human monogenic diseases. Bioessays. 1987 Jun;6(6):247–253. doi: 10.1002/bies.950060602. [DOI] [PubMed] [Google Scholar]
  7. Davies M. J., Moore B. P., Braimbridge M. V. The floppy mitral valve. Study of incidence, pathology, and complications in surgical, necropsy, and forensic material. Br Heart J. 1978 May;40(5):468–481. doi: 10.1136/hrt.40.5.468. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Devereux R. B., Brown W. T. Genetics of mitral valve prolapse. Prog Med Genet. 1983;5:139–161. [PubMed] [Google Scholar]
  9. Devereux R. B., Brown W. T., Kramer-Fox R., Sachs I. Inheritance of mitral valve prolapse: effect of age and sex on gene expression. Ann Intern Med. 1982 Dec;97(6):826–832. doi: 10.7326/0003-4819-97-6-826. [DOI] [PubMed] [Google Scholar]
  10. Devereux R. B., Kramer-Fox R., Brown W. T., Shear M. K., Hartman N., Kligfield P., Lutas E. M., Spitzer M. C., Litwin S. D. Relation between clinical features of the mitral prolapse syndrome and echocardiographically documented mitral valve prolapse. J Am Coll Cardiol. 1986 Oct;8(4):763–772. doi: 10.1016/s0735-1097(86)80415-6. [DOI] [PubMed] [Google Scholar]
  11. Devereux R. B., Kramer-Fox R., Shear M. K., Kligfield P., Pini R., Savage D. D. Diagnosis and classification of severity of mitral valve prolapse: methodologic, biologic, and prognostic considerations. Am Heart J. 1987 May;113(5):1265–1280. doi: 10.1016/0002-8703(87)90955-0. [DOI] [PubMed] [Google Scholar]
  12. Grobler-Rabie A. F., Wallis G., Brebner D. K., Beighton P., Bester A. J., Mathew C. G. 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. EMBO J. 1985 Jul;4(7):1745–1748. doi: 10.1002/j.1460-2075.1985.tb03845.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Hammer D., Leier C. V., Baba N., Vasko J. S., Wooley C. F., Pinnell S. R. Altered collagen composition in a prolapsing mitral valve with ruptured chordae tendineae. Am J Med. 1979 Nov;67(5):863–866. doi: 10.1016/0002-9343(79)90746-0. [DOI] [PubMed] [Google Scholar]
  14. Henney A. M., Parker D. J., Davies M. J. Collagen biosynthesis in normal and abnormal human heart valves. Cardiovasc Res. 1982 Nov;16(11):624–630. doi: 10.1093/cvr/16.11.624. [DOI] [PubMed] [Google Scholar]
  15. Jaffe A. S., Geltman E. M., Rodey G. E., Uitto J. Mitral valve prolapse: a consistent manifestation of type IV Ehlers-Danlos syndrome. The pathogenetic role of the abnormal production of type III collagen. Circulation. 1981 Jul;64(1):121–125. doi: 10.1161/01.cir.64.1.121. [DOI] [PubMed] [Google Scholar]
  16. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
  18. Levine R. A., Triulzi M. O., Harrigan P., Weyman A. E. The relationship of mitral annular shape to the diagnosis of mitral valve prolapse. Circulation. 1987 Apr;75(4):756–767. doi: 10.1161/01.cir.75.4.756. [DOI] [PubMed] [Google Scholar]
  19. Lis Y., Burleigh M. C., Parker D. J., Child A. H., Hogg J., Davies M. J. Biochemical characterization of individual normal, floppy and rheumatic human mitral valves. Biochem J. 1987 Jun 15;244(3):597–603. doi: 10.1042/bj2440597. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Myers J. C., Emanuel B. S. Chromosomal localization of human collagen genes. Coll Relat Res. 1987 Jun;7(2):149–159. doi: 10.1016/s0174-173x(87)80006-7. [DOI] [PubMed] [Google Scholar]
  21. Ogilvie D. J., Wordsworth B. P., Priestley L. M., Dalgleish R., Schmidtke J., Zoll B., Sykes B. C. Segregation of all four major fibrillar collagen genes in the Marfan syndrome. Am J Hum Genet. 1987 Dec;41(6):1071–1082. [PMC free article] [PubMed] [Google Scholar]
  22. Pini R., Devereux R. B., Greppi B., Roman M. J., Hochreiter C., Kramer-Fox R., Niles N. W., Kligfield P., Erlebacher J. A., Borer J. S. Comparison of mitral valve dimensions and motion in mitral valve prolapse with severe mitral regurgitation to uncomplicated mitral valve prolapse and to mitral regurgitation without mitral valve prolapse. Am J Cardiol. 1988 Aug 1;62(4):257–263. doi: 10.1016/0002-9149(88)90222-6. [DOI] [PubMed] [Google Scholar]
  23. Procacci P. M., Savran S. V., Schreiter S. L., Bryson A. L. Prevalence of clinical mitral-valve prolapse in 1169 young women. N Engl J Med. 1976 May 13;294(20):1086–1088. doi: 10.1056/NEJM197605132942004. [DOI] [PubMed] [Google Scholar]
  24. Savage D. D., Garrison R. J., Devereux R. B., Castelli W. P., Anderson S. J., Levy D., McNamara P. M., Stokes J., 3rd, Kannel W. B., Feinleib M. Mitral valve prolapse in the general population. 1. Epidemiologic features: the Framingham Study. Am Heart J. 1983 Sep;106(3):571–576. doi: 10.1016/0002-8703(83)90704-4. [DOI] [PubMed] [Google Scholar]
  25. Sbarbaro J. A., Mehlman D. J., Wu L., Brooks H. L. A prospective study of mitral valvular prolapse in young men. Chest. 1979 May;75(5):555–559. doi: 10.1378/chest.75.5.555. [DOI] [PubMed] [Google Scholar]
  26. Schwartz R. C., Liddell A., Ramirez F., Tsipouras P. An RFLP in the gene for the human pro-alpha 2 chain of type V collagen (COL5A2). Nucleic Acids Res. 1988 Jun 10;16(11):5225–5225. doi: 10.1093/nar/16.11.5225. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Sykes B., Ogilvie D., Wordsworth P., Anderson, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet. 1986 Jul 12;2(8498):69–72. doi: 10.1016/s0140-6736(86)91609-0. [DOI] [PubMed] [Google Scholar]
  28. Tsipouras P., Byers P. H., Schwartz R. C., Chu M. L., Weil D., Pepe G., Cassidy S. B., Ramirez F. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet. 1986 Sep;74(1):41–46. doi: 10.1007/BF00278783. [DOI] [PubMed] [Google Scholar]
  29. Tsipouras P., Børresen A. L., Bamforth S., Harper P. S., Berg K. Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet. 1986 Nov;30(5):428–432. [PubMed] [Google Scholar]
  30. Tsipouras P., Myers J. C., Ramirez F., Prockop D. J. Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest. 1983 Oct;72(4):1262–1267. doi: 10.1172/JCI111082. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Tsipouras P., Ramirez F. Genetic disorders of collagen. J Med Genet. 1987 Jan;24(1):2–8. doi: 10.1136/jmg.24.1.2. [DOI] [PMC free article] [PubMed] [Google Scholar]

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