Journal of Molecular and Cellular Cardiology
Volume 42, Issue 2 , Pages 352-356 , February 2007

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

  • Krishna Kumar Singh

      Affiliations

    • Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany
    • ,
  • Diana Elligsen

      Affiliations

    • Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany
    • ,
  • Rüdiger Liersch

      Affiliations

    • Department of Cardiology, Center of Pediatrics, Wuppertal, Germany
    • ,
  • Stefanie Schubert

      Affiliations

    • Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany
    • ,
  • Brigitte Pabst

      Affiliations

    • Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany
    • ,
  • Mine Arslan-Kirchner

      Affiliations

    • Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany
    • ,
  • Jörg Schmidtke

      Affiliations

    • Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany
    • Corresponding Author InformationCorresponding author. Tel.: +49 511 532 6537; fax: +49 511 532 5865.

Received 25 April 2006 ,Revised 20 September 2006 ,Accepted 8 November 2006.

References 

  1. Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366:1965–1976[Review]
  2. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 1996;62:417–426
  3. Magenis RE, Maslen CL, Smith L, Allen L, Sakai LY. Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1. Genomics. 1991;11:346–351
  4. Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC. Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics. 1999;56:70–77
  5. Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics. 1993;17:476–484
  6. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol. 1986;103:2499–2509
  7. Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr. Opin. Cardiol. 2005;20:194–200[Review]
  8. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch. Intern. Med. 2001;161:2447–2454
  9. Loeys B, de Backer J, van Acker P, Wettinck K, Pals G, Nuytinck L, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum. Mutat. 2004;24:140–146
  10. Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhanen L, et al. Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc. Natl. Acad. Sci. U. S. A. 1992;89:5917–5921
  11. Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U. Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC Med. Genet. 2001;2:11
  12. Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum. Mutat. 2002;20:406–407
  13. Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Muller G, et al. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome. Hum. Mutat. 2005;26:529–539
  14. Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome. Hum. Mol. Genet. 1996;5:1581–1587
  15. Whiteman P, Hutchinson S, Handford PA. Fibrillin-1 misfolding and disease. Antioxid. Redox Signal. 2006;8:338–346
  16. Palz M, Tiecke F, Booms P, Goldner B, Rosenberg T, Fuchs J, et al. Clustering of mutations associated with mild Marfan-like phenotypes in the 3′ region of FBN1 suggests a potential genotype–phenotype correlation. Am. J. Med. Genet. 2000;91:212–221[Review]
  17. Robinson PN, Booms P. The molecular pathogenesis of the Marfan syndrome. Cell. Mol. Life Sci. 2001;58:1698–1707[Review]

PII: S0022-2828(06)01026-1

doi: 10.1016/j.yjmcc.2006.11.006

Journal of Molecular and Cellular Cardiology
Volume 42, Issue 2 , Pages 352-356 , February 2007

Article Tools

* Image Usage & Resolution