Abstract
The term hypermobility syndrome (HMS) was coined to denote the presence of rheumatic symptoms with generalised joint laxity, in the absence of any demonstrable systemic rheumatic disease (Kirk et al. 1967). Of 9275 consecutive patients attending the rheumatology clinic at Guy’s Hospital, 2% were diagnosed as suffering from HMS. Of these, 85% were female (see Chap. 6). A similar prevalence (1.7%) has been seen among 690 new referrals to a paediatric rheumatology centre (Ansell 1972).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Al Rawi ZS, Al-Aszawi AJ, Al-Chalabi T (1985) Joint mobility among university students in Iraq. Br J Rheumatol 24: 326–331
Ansell BM (1972) Hypermobility of joints. Mod Trends Orthop 6: 419–425
Beighton P, Solomon L, Soskolne CL (1973) Articular mobility in an African population. Ann Rheum Dis 32: 413–418
Brotherton DH, Child AH, Grahame R, Henney AM (1988) Inheritance of joint hypermobility syndrome is unassociated with an RFLP for pro-alpha2 (I) collagen. Br J Rheumatol 27 [Suppl 2]: 137
Brotherton DH, Child AH, Grahame R, Henney AM (1989) Joint hypermobility syndrome is not caused by a structural collagen gene defect. Br J Rheumatol (in press)
Child A (1986) Joint hypermobility syndrome. Inherited disorders of collagen synthesis. J Rheumatol 13: 239–243 (editorial)
Child A (1988a) Aortic compliance and collagen biosynthesis in heritable human disorders of connective tissue. M.D. thesis, University of Leicester
Child A (1988b) Diagnosing Marfan syndrome. Br Med J 296: 1673–1674
Dembure PP, Priest JH, Snoddy SC, Elsas LJ (1984) Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. Am J Hum Genet 36: 783–790
Devereux RB, Brown T, Kramer-Fox R et al. (1982) Inheritance of mitral valve prolapse, effect of age and sex on gene expression. Ann Intern Med 97: 826–832
Handler CE, Child AH, Light ND, et al. (1985) Mitral valve prolapse, aortic compliance and skin collagen in joint hypermobility syndrome. Br Heart J 54: 501–508
Kirk JA, Ansell BM, Bywaters EGL (1967) The hypermobility syndrome. Ann Rheum Dis 26: 419–425
Kuhn K (1984) Structural and functional domains of collagen: a comparison of the protein with its gene. Coll Relat Res 4: 309–322
Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA (1973) Defect inconversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science 182: 298–299
McKusick VA (1986) Mendelian inheritance in man, 7th Ed. Johns Hopkins University Press, Baltimore and London
Myers JC, Emanuel BS (1987) Chromosomal localisation of human collagen genes. Coll Rel Res 7: 149–159
Ogilvie DJ, Wordsworth BP, Priestly LM et al. (1987) Segregation of all four major fibrillar collagen genes in Marf an’s syndrome. Am J Hum Genet 41: 1071–1082
Ott J (1985) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore and London
Southern E (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98: 503–517
Steinmann B, Tuderman L, Peltonen L et al. (1980) Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem 255: 8887–8893
Sykes BC (1985) The molecular genetics of collagen. Bioessays 3: 112–117
Sykes BC (1987) Genetics cracks bone disease. Nature 330: 607–608 (News and Views article reviewing the 3rd International Conference on osteogenesis imperfecta).
Tromp G, Prockop DJ (1988) Single base mutation in the pro alpha-2(I) collagen gene that causes efficient splicing of RNA from exon 27 to 29 and synthesis of a shortened but in-frame pro alpha-2(I) chain. Proc Natl Acad Sci USA 85: 5254–5258
Tsipouras P, Borresen A-L, Bamforth S et al. (1986) Marfan’s syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet 30: 428–432
Tsipouras P, Ramirez F (1987) Genetic disorders of collagen. J Med Genet 24: 2–8
Weil D, Bernard M, Combates N et al. (1988) Identification of a mutation that caused exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem 263: 8561–8564
Wordsworth P, Ogilvie D, Smith R, Sykes B (1987). Joint mobility with particular reference to racial variation and inherited connective tissue disorders. Br J Rheumatol 26: 9–12
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1989 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Beighton, P., Grahame, R., Bird, H. (1989). Genetic Aspects of the Hypermobility Syndrome. In: Grahame, R. (eds) Hypermobility of Joints. Springer, London. https://doi.org/10.1007/978-1-4471-3900-3_5
Download citation
DOI: https://doi.org/10.1007/978-1-4471-3900-3_5
Publisher Name: Springer, London
Print ISBN: 978-1-4471-3902-7
Online ISBN: 978-1-4471-3900-3
eBook Packages: Springer Book Archive