Skip to main content
SpringerLink
Log in

Williams-Beuren Syndrome And Supravalvularaortic Stenosis

  • Chapter
Cardiovascular Genetics for Clinicians

Part of the book series: Developments in Cardiovascular Medicine ((DICM,volume 239))

  • 62 Accesses

Abstract

Supravalvular aortic stenosis (SV AS, Online MendeIian Inheritance in Man, [OMIM], #185500, search at http://www.ncbi.nlm.nih.gov/omiml) is an obstructive vascular lesion that involves the ascending aorta. It is often associated with stenoses of the pulmonary or other arteries. SV AS can occur sporadically, as an autosomal dominant condition with incomplete penetrance and variable expressivity, or associated with a more complex developmental disorder, Williams-Beuren syndrome (WBS, OMIM#194050). There was some controversy in the literature whether SV AS and WES cou1d be the same disorder [1,2]. The molecu1ar basis of SVAS was discovered in 1993 when !inkage studies of separate kindreds mapped the responsible locus to chromosome 7q [3,4] and a disruption of the elastin (ELN) gene (located at 7q11.23) was found in a family in which a translocation of chromosome 7 was cosegregating with SVAS [5]. Soon thereafter, hemizygosity at the ELN gene was found in all WBS cases studied [6] with deletions extending far outside the ELN locus. It became then clear that both entities, WBS and isolated SV AS, exist in aseparate manner being allelic conditions. Whi1e SV AS is caused by mutations affecting only the elastin gene [7], WES is a contiguous gene disorder due to a large deletion including both the elastin and additional genes [8]. Some forms of autosomal dominant cutis laxa (OMIM#123700) have been shown recently to be also allelic disorders caused by elastin mutations [9,10].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Grimm T, Wesselhoeft H. The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis: investigation of 128 families. Z Kardiol 1980; 69:168–72.

    PubMed  CAS  Google Scholar 

  2. Garcia R.E, Friedman W.F, Kaback MM, Rowe RD. Idiopathic hypercalcemia and supravalvular aortic stenosis: documentation of a new syndrome. New Eng J Med. 1964; 271:117–20.

    Article  PubMed  CAS  Google Scholar 

  3. Ewart A.K, Morris C.A, Ensing G.J, et al. A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. Proc Nat Acad Sci 1993; 90:322–30.

    Article  Google Scholar 

  4. Olson T.M, Michels V.V, Lindor N.M.D.J., et al. Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. Hum Mol Genet 1993; 2:869–73.

    Article  PubMed  CAS  Google Scholar 

  5. Curran M.E, Atkinson D.L, Ewart A.K, et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993; 73:159–68.

    Article  PubMed  CAS  Google Scholar 

  6. Ewart A.K, Morris C.A, Atkinson D et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet 1993; 5:11–6.

    Article  PubMed  CAS  Google Scholar 

  7. Chowdhury T, Reardon W. Elastin mutation and cardiac disease. Pediatr Cardiol1999; 20:103–7.

    Article  PubMed  CAS  Google Scholar 

  8. Francke U. Williams syndrome: genes and mechanisms. Hum Mol Genet 1999; 8:1947–54.

    Article  PubMed  CAS  Google Scholar 

  9. Tassabehji M, Metcalfe K, Hurst J, et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998; 7:1021–8.

    Article  PubMed  CAS  Google Scholar 

  10. Zhang M.C, He L, Giro M, et al. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem 1999; 274:981–6.

    Article  PubMed  CAS  Google Scholar 

  11. Morris C.A, Demsey S.A, Leonard C.O, Dilts C, Blackbum B.L. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988; 113:318–26.

    Article  PubMed  CAS  Google Scholar 

  12. Bum J. Williams syndrome. J Med Genet 1986; 23:389–95.

    Article  Google Scholar 

  13. Greenberg F. Williams syndrome professional symposium. Am J Med Genet 1990; 6 (suppl):85–8.

    Google Scholar 

  14. Morris C.A, Thomas I.T and Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet 1993; 47:478–81.

    Article  PubMed  CAS  Google Scholar 

  15. Sadler L.S, Robinson L.K, Verdaasdonk K.R, Gingell R. The Williams syndrome: evidence for possible autosomal dominant inheritance. Am J Med Genet1993; 47:468–70.

    Article  PubMed  CAS  Google Scholar 

  16. Fanconi V.G, Giardet P, Schlesinger B, Butler N, Black J. Chronische hypercalcamie kambiniert mit osteosklerose, hyperazotamie, minderwuschs und kongenitalen missbildungen. Helv Paediatr Acta 1952; 7:314–49.

    PubMed  CAS  Google Scholar 

  17. Williams J.C.P., Barratt-Boyes B.G, Lowe J.B. Supravalvular aortic stenosis. Circulation 1961; 24:1311–8.

    Article  PubMed  CAS  Google Scholar 

  18. Beuren A.J, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962; 26:1235–40.

    Article  PubMed  CAS  Google Scholar 

  19. Jones K.L. Williams syndrome: an historical perspective of its evolution, natural history, and etiology. Am J Med Genet 1990; 6(suppl):89–96.

    CAS  Google Scholar 

  20. Winter M, Pankau R, Amm M, Gosch A, Wes sei A. The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet 1996; 49:28–31.

    Article  PubMed  CAS  Google Scholar 

  21. Olitsky S.E, Sadler L.S, Reynolds I.D. Subnormal binocular vision in the Williams syndrome. J Pediatr Ophthalmol Strabismus 1997; 34:58–60.

    PubMed  CAS  Google Scholar 

  22. Sadler L.S, Olitsky S.E, Reynolds I.D. Reduced stereoacuity in Williams syndrome. Am J Med Genet 1996; 66:287–8.

    Article  PubMed  CAS  Google Scholar 

  23. Partsch C.L, Dreyer G, Gosch A., et al. Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J Pediatr 1999; 134:82–9.

    Article  PubMed  CAS  Google Scholar 

  24. Kaplan P, Kirschner M, Watters G, Costa M.T. Contractures in patients with Williams syndrome. Pediatrics 1989; 84:895–9.

    PubMed  CAS  Google Scholar 

  25. Sadler L.S., Gingell R, Martin D.J. Carotid ultrasound examination in Williams syndrome. J Pediatr 1998; 132:354–6.

    Article  PubMed  CAS  Google Scholar 

  26. Bird L.M., Billman G.F., Lacro R.V., et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr 1996; 129:926–3l.

    Article  PubMed  CAS  Google Scholar 

  27. Broder K, Reinhardt E, Ahem J, et al. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet 1999; 83:356–60.

    Article  PubMed  CAS  Google Scholar 

  28. Bellugi U, Lichtenberger L, Jones W, Lai Z, St George M. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses. J Cogn Neurosci.2000; 12(Suppl 1):7–29.

    Article  PubMed  Google Scholar 

  29. Mervis C.B., Klein-Tasman B.P. Williams syndrome: cognition, personality, and adaptive behavior. Ment Retard Dev Disabil Res Rev 2000; 6:148–58.

    Article  PubMed  CAS  Google Scholar 

  30. Udwin O. A survey of adults with Williams syndrome and idiopathic infantile hypercalcemia. Dev Med Child Neurol 1990; 32:129–4l.

    Article  PubMed  CAS  Google Scholar 

  31. Voit T, Kramer H, Thomas C, et al. Myopathy in Williams-Beuren syndrome. Eur J Pediatr 1991; 150:521–6.

    Article  PubMed  CAS  Google Scholar 

  32. Mercuri E, Atkinson J, Braddick O, et al. Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study. Europ J Paediatr Neurol 1997; 1:177–8l.

    CAS  Google Scholar 

  33. Lenhoff H.M., Wang P.P., Greenberg F, Bellugi U. Williams syndrome and the brain. Scientific American 1997; 277:68–73.

    Article  PubMed  CAS  Google Scholar 

  34. Schmitt J.E., Eliez S, Bellugi U, Reiss A.L. Analysis ofCerebral Shape in Williams Syndrome. Arch Neurol 2001; 58:283–7.

    Article  PubMed  CAS  Google Scholar 

  35. Galaburda A.M, Bellugi U. Multi-level analysis of cortical neuroanatomy in Williams syndrome. J Cogn Neurosci 2000; 12(Suppll):74–88.

    Article  PubMed  Google Scholar 

  36. Mills D.L, Alvarez T.D, St George M, et al. Electrophysiological studies offace processing in Williams syndrome. J Cogn Neurosci 2000; 12(Suppll):47–64.

    Article  PubMed  Google Scholar 

  37. Forbes G.B., Bryson M.F., Manning J., Amirhakimi G.H., Reina J.C. Impaired calcium homeostasis in the infantile hypercalcemic syndrome. Acta Paediat Scand 1972; 61,305–9.

    Article  PubMed  CAS  Google Scholar 

  38. Kruse K, Pankau R, Gosch A, Wohlfahrt K. Calcium metabolism in Williams-Beuren syndrome. J. Pediatr 1992; 121:902–7.

    Article  PubMed  CAS  Google Scholar 

  39. Lashkari A, Smith A.K, Graham I.M. Williams-Beuren syndrome: an update and review for the primary physician. Clin Pediatr (Phila) 1999; 38:189–208.

    Article  CAS  Google Scholar 

  40. Pankau R, Partsch C.J, Winter M, Gosch A, WesseI A. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet 1996; 63:301–4.

    Article  PubMed  CAS  Google Scholar 

  41. Pober B.R, Lacro R.V, Rice C, Mandell V, Teele R.L. Renal findings in 40 individuals with Williams syndrome Am J Med Genet 1993; 46:271–4.

    Article  PubMed  CAS  Google Scholar 

  42. Cammareri V, Vignati G, Nocera G, Beck-Peccoz P, Persani L. Thyroid hemiagenesis and elevated thyrotropin levels in a child with Wil!iams syndrome. Am J Med Genet 1999; 85:491-4.Santer R, Pankau R, Schaub J, Burgin-Wolff A. Williams-Beuren syndrome and celiac disease. J Pediatr Gastroenterol Nutr 1996; 23:339–40.

    Google Scholar 

  43. Perez Jurado L.A, Peoples R, Wang Y-K et al. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 1996; 59:618–25.

    Google Scholar 

  44. WU Y.Q, Sutton V.R, Nickerson E et al. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet 1998; 78:82–9.

    Article  PubMed  CAS  Google Scholar 

  45. Peoples R, Franke Y, Wang Y.K, et al. A physical map, including a BACIPAC clone contig, of the Williams-Beuren syndrome deletion region at 7q11.23. Am J Hum Genet 2000; 66:47–68.

    Article  PubMed  CAS  Google Scholar 

  46. Valero M.C, de Luis O, Cruces J, Perez Jurado L.A. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous regionon mouse chromosome 5G: the low-copy repeats that flank the williams-beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Genomics. 2000; 69:1–13.

    Article  PubMed  CAS  Google Scholar 

  47. Urban Z, Helms C, Fekete G et al. 7q11.23 deletions in Williams syndrome arise as a consequence ofunequal meiotic crossover. Am J Hum Genet 1996; 59:958–62.

    PubMed  CAS  Google Scholar 

  48. Dutly F, Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 1996; 5:1893–98.

    Article  PubMed  CAS  Google Scholar 

  49. DeSilva U, Massa H, Trask B.J, Green E.D. Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome. Genome Res 1999; 9:428–36.

    PubMed  CAS  Google Scholar 

  50. Perez Jurado L.A, Wang Y-K, Peoples R, et al. A duplicate gene in the breakpoint regions of the Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet 1998; 7:325–34.

    Article  PubMed  CAS  Google Scholar 

  51. Hockenhull E.L, Carette M.J, Metcalfe K, et al. A complete physical contig and partial transcript map of the Williams syndrome critical region. Genomics 1999; 58:138–45.

    Article  PubMed  CAS  Google Scholar 

  52. Meng X, Lu X, Morris C.A, Keating M.T. A novel human gene FKBP6 is deleted in Williams syndrome. Genomics 1998; 52:130–7.

    Article  PubMed  CAS  Google Scholar 

  53. Wang Y-K, Harryman-Samos C, Peoples R, et al. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Hum Mol Genet 1997; 6:465–72.

    Article  PubMed  CAS  Google Scholar 

  54. Lu X, Meng X, Morris C.A, Keating M.T. A novel human gene, WBSTF, is deleted in Williams syndrome. Genomics 1998; 54:241–9.

    Article  PubMed  CAS  Google Scholar 

  55. Peoples R.J, Cisco M.J, Kaplan P, Francke U. Identification of the WBSCR9 gene, encoding a novel transcrition regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet 1998; 82:238–46.

    Article  PubMed  CAS  Google Scholar 

  56. Jadayel D.M, Osbome L.R, Coignet L.J.A. et al. The BCL7 gene family: deletion ofBCL7B in Williams syndrome. Gene 1998s; 224:35–44.

    Article  PubMed  CAS  Google Scholar 

  57. Meng X, Lu X, Li Z et al. Complete physical map of the common deletion region and characterization of three novel genes. Hum Genet 1998; 103:590–9.

    Article  PubMed  CAS  Google Scholar 

  58. Perez Jurado L.A., Wang Y-K, Francke U, Cruces J. TBL2, a novel transducin family member in the WBS deletion: characterization of the entire sequence, splice variants and the mouse ortholog. Cytogenet Cell Genet 1999; 86:277–84.

    Article  PubMed  CAS  Google Scholar 

  59. de Luis O, Valero M.C, Jurado L.A. WBSCRI4, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. Eur J Hum Genet 2000; 8:215–22.

    Article  PubMed  Google Scholar 

  60. Osbome L.R, Soder S, Shi X.M, et al. Hemizygous deletion of the syntaxin IA gene in individuals with Williams syndrome. Am J Hum Genet 1997; 61:44–52.

    Google Scholar 

  61. Papema T, Peoples R, Wang Y-K, Kaplan P, Francke U. Genes for the CPE-receptor (CPETRI) and the human homolog of RVP (CPETR2) are localized within the WilliamsBeuren syndrome deletion. Genomics 1998; 54:453–9.

    Article  Google Scholar 

  62. Frangiskakis I.M, Ewart A.K, Morris C.A et al. LIM-kinase 1 hemizygosity implicated in impaired visuospacial cognitive cognition. Cell 1996; 86:59-69.

    Google Scholar 

  63. Osbome L, Martindale D, Scherer S.W, et al. Identification of genes from a 500 kb region that is commonly deleted in Williams syndrome. Genomics 1996; 36:32–36.

    Google Scholar 

  64. Doyle J.L, DeSilva U, Miller W, Green E.D. Divergent human and mouse orthologs of a novel gene (WBSCRI5/Wbscrl5) reside within the genomic interval commonly deleted in Williams syndrome. Cytogenet Cell Genet 2000; 90:285–90.

    Article  PubMed  CAS  Google Scholar 

  65. Peoples R.J, Pérez Jurado L.A, Wang Y-K, Kaplan P, Francke U. The gene for the replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet 1996; 58:1370–3.

    CAS  Google Scholar 

  66. Hoogenraad C.C, Eussen B.H.J, Langeveld A et al. The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. Genomics 1998; 53:348–58.

    CAS  Google Scholar 

  67. Osbome L.R, Campbell T, Daradich A, Scherer S.W, Tsui L.C. Identification of a putative transcription factor gene (WBSCRll) that is commonly deleted in Williams-Beuren syndrome. Genomics 1999; 57:279–84.

    Article  Google Scholar 

  68. Franke Y, Peoples R.J, Francke U. Identification of GTF2IRDI, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet 1999; 86:296–304.

    Google Scholar 

  69. Imreh G, HaUberg E. An integral membrane protein from the nuclear pore complex is also present in the annulate lamellae: implications for annulate lamella formation. Exp CeU Res 2000; 259:180–90.

    Google Scholar 

  70. Ito T, Levenstein M.E, Fyodorov D.V, et al. ACF consists of two subunits, Acfl and ISWI, that function cooperatively in the ATP-dependent catalysis of chromatin assembly. Genes Dev 1999; 13:1529–39.

    Article  PubMed  CAS  Google Scholar 

  71. Natter S, Seiberler S, Hufnagl P, et al. Isolation of cDNA clones coding for IgE auto antigens with serum IgE from atopic dermatitis patients. FASEB J 1998; 14:1559–69.

    Google Scholar 

  72. Tsukita S, Furuse M. Pores in the wall: claudins constitute tight junction strands containing aqueous pores. J Cell Biol 2000; 149:13–6.

    Article  PubMed  CAS  Google Scholar 

  73. Rosenbloom J, Abrams W.R, Mecham R. Extracellular matrix 4: the elastic fiber. FASEB J. 1993; 7:1208–18.

    PubMed  CAS  Google Scholar 

  74. Stanyon C.A, Bemard O. LIM-kinase I. Int J Biochem Cell Biol 1999; 31:389–94.

    Article  PubMed  CAS  Google Scholar 

  75. Reynolds N, Fantes P.A, MacNeill SA. A key role for replication factor C in DNA replication checkpoint function in fission yeast. Nucleic Acids Res 1999; 27:462–9.

    Article  PubMed  CAS  Google Scholar 

  76. Richter N.J, Rogers G.W, Hensold JO, Merrick W.C. Further biochemical and kinetic characterization of human eukaryotic initiation factor 4H. J Biol Chem 1999; 274:35415–24.

    Article  PubMed  CAS  Google Scholar 

  77. Hoogenraad C.C, Akhmanova A, Grosveld F, De Zeeuw C.I, Galjart N. Functional analysis of CLIP-I 15 and its binding to microtubules. J Cell Sci 2000; 113:2285–97.

    PubMed  CAS  Google Scholar 

  78. Bayarsaihan D, Ruddle F.H. Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-Ioop-helix domains. Proc Natl Acad Sci USA 2000; 97:7342–7.

    Article  PubMed  CAS  Google Scholar 

  79. O’Mahoney N, Guven K.L, Lin J, et al. Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. Mol Cell Biol1998; 18:6641–52..

    PubMed  Google Scholar 

  80. Roy A.L, Du H, Gregor P.D, et al. Cloning of an inr-and E-box-binding protein, TFII-I, that interacts physically and functionally with USFI. EMBO J. 1997; 16:7091–104.

    Article  PubMed  CAS  Google Scholar 

  81. Nauseef W.M. The NADPH-dependent oxidase of phagocytes. Proc Assoc Am Physicians.1999; 111:373–82.

    PubMed  CAS  Google Scholar 

  82. Dridi S.M, Ghomrasseni S, Bonnet D, et al. Skin elastic fibers in Williams syndrome. Am J Med Genet 1999; 87:134–8.

    Article  PubMed  CAS  Google Scholar 

  83. O’Connor W.N, Davis J.B, Geissler R, et al. Supravalvular aortic stenosis. Clinical and pathologic observations in six patients. Arch Pathol Lab Med 1985; 109:179–85.

    Google Scholar 

  84. Li D.Y, Brooke B, Davis E.C, et al. Elastin is an essential determinant of arterial morphogenesis. Nature 1998; 393:276–80.

    Article  PubMed  CAS  Google Scholar 

  85. Li D.Y, Faury G, Taylor D.G, et al. Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest 1998; 102:1783–7.

    Article  PubMed  CAS  Google Scholar 

  86. Tassabehji M, Metcalfe K, Karmiloff-Smith A et al. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 1999; 64:118–25.

    Article  PubMed  CAS  Google Scholar 

  87. Botta A, Novelli G, Mari A, et al. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STXIA and FZD3 genes. J Med Genet. 1999; 36:478–80.

    PubMed  CAS  Google Scholar 

  88. Korenberg J.R, Chen X.N, Hirota H, et al. Genome structure and cognitive map of Williams syndrome. J Cogn Neurosci 2000; 12(Suppl 1):89–107.

    Article  PubMed  Google Scholar 

  89. Wang M.S, Schinzel A, Kotzot D, et al. Molecular and clinical correlation study of Williams Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet 1999; 86:34–43.

    Article  PubMed  CAS  Google Scholar 

  90. Stamm C, Friehs I, Ho S.V., et al. Congenital supravalvar aortic stenosis: a simple lesion? Eur J Cardiothorac Surg 2001; 19:195–202.

    Article  PubMed  CAS  Google Scholar 

  91. McDonald A.H, Gerlis L.M, Sommerville J. Familial arteriopathy with associated pulmonary and systemic arterial stenosis. Brit. Heart J 1969; 31:375–85.

    Article  PubMed  CAS  Google Scholar 

  92. Tassabehji M, Metcalfe K, Donnai D, et al. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet 1997; 6:1029–36.

    Article  PubMed  CAS  Google Scholar 

  93. Urban Z, Michels V.V, Thibodeau S.N, et al. Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum. Genet. 1999; 104:135–142

    Article  PubMed  CAS  Google Scholar 

  94. Urban Z, Michels V.V, Thibodeau S.N, et al. Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. Hum Genet 2000; 106:577–88.

    Article  PubMed  CAS  Google Scholar 

  95. Metcalfe K, Rucka A.K, Smoot L. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 2000; 8:955–63.

    Article  PubMed  CAS  Google Scholar 

  96. Beighton P.H. The dominant and recessive forms of cutis laxa. J Med Genet 1972; 9:216–21.

    Article  PubMed  CAS  Google Scholar 

  97. Sephel G.C, Byers P.H, Holbrook K.A, Davidson J.M. Heterogeneity of elastin expression in cutis laxa fibroblast strains. J Invest Derm 1989; 93:147–53.

    Article  PubMed  CAS  Google Scholar 

  98. Zhang M.C, Giro M, Quaglino D, Davidson J.M. Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. J Clin Invest 1995; 95:986–94.

    Article  PubMed  CAS  Google Scholar 

  99. Nusbaum C, Sionim D.K, Harris K.L, et al. A YAC-based physicalmap of the mouse genome. Nat Genet 1999; 22:388–93.

    Article  PubMed  CAS  Google Scholar 

  100. Venter J.C, Adams M.D, Myers E.W, et al. The Sequence of the Human Genome. Science.2001; 291:1304–51.

    Article  PubMed  CAS  Google Scholar 

  101. International human genome sequencing consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409:860–921.

    Article  Google Scholar 

Download references

Authors
  1. L. Pérez Jurado
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Academic Hospital Maastricht, Maastricht, The Netherlands

    P. A. Doevendans

  2. Academic Medical Center, Amsterdam, The Netherlands

    A. A. M. Wilde

Rights and permissions

Reprints and permissions

Copyright information

© 2001 Springer Science+Business Media Dordrecht

About this chapter

Cite this chapter

Jurado, L.P. (2001). Williams-Beuren Syndrome And Supravalvularaortic Stenosis. In: Doevendans, P.A., Wilde, A.A.M. (eds) Cardiovascular Genetics for Clinicians. Developments in Cardiovascular Medicine, vol 239. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-1019-1_10

Download citation

  • DOI: https://doi.org/10.1007/978-94-010-1019-1_10

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-3888-1

  • Online ISBN: 978-94-010-1019-1

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation