Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Case Presentation
  • Published:

Perinatal/Neonatal Case Presentation

A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome

Journal of Perinatology volume 28, pages 303–305 (2008)Cite this article

Abstract

Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with severe Marfan syndrome and a novel mutation involving cysteine substitution within one of the epidermal growth factor-like domains of FBN1.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

Similar content being viewed by others

References

  1. Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312 (5770): 117–121.

    Article  CAS  Google Scholar 

  2. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352 (6333): 337–339.

    Article  CAS  Google Scholar 

  3. Hennekam RC . Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 2005; 139 (1): 1.

    Article  Google Scholar 

  4. Milewicz DM, Duvic M . Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet 1994; 54 (3): 447–453.

    CAS  PubMed  PubMed Central  Google Scholar 

  5. Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002; 20 (3): 153–161.

    Article  CAS  Google Scholar 

  6. Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M et al. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24–40. Eur J Hum Genet 2001; 9 (1): 13–21.

    Article  CAS  Google Scholar 

  7. Dietz HC, Pyeritz RE . Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995; 4 spec no.: 1799–1809.

    Article  Google Scholar 

  8. Collod-Beroud G, Beroud C, Ades L, Black C, Boxer M, Brock DJ et al. Marfan database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998; 26 (1): 223–229.

    Article  Google Scholar 

  9. Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006; 43 (10): 769–787.

    Article  CAS  Google Scholar 

  10. Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U . Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999; 65 (4): 1007–1020.

    Article  CAS  Google Scholar 

  11. Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D et al. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004; 114 (11): 1586–1592.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Cardiology, Hasbro Children's Hospital, Providence, RI, USA

    L Kochilas

  2. Warren Alpert Medical School of Brown University, Providence, RI, USA

    L Kochilas, F Gundogan, M Atalay, J M Bliss & D Abuelo

  3. Department of Pathology, Women & Infants Hospital, Providence, RI, USA

    F Gundogan

  4. Department of Diagnostic Imaging, Rhode Island Hospital, Providence, RI, USA

    M Atalay

  5. Department of Pediatrics, Division of Neonatology, Women & Infants Hospital, Providence, RI, USA

    J M Bliss

  6. Department of Pediatrics (Cardiology), John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA

    M Vatta & L S Pena

  7. Department of Genetics, Hasbro Children's Hospital, Providence, RI, USA

    D Abuelo

Authors
  1. L Kochilas
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. F Gundogan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M Atalay
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J M Bliss
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M Vatta
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. L S Pena
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. D Abuelo
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to L Kochilas.

Additional information

No funding provided and no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kochilas, L., Gundogan, F., Atalay, M. et al. A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome. J Perinatol 28, 303–305 (2008). https://doi.org/10.1038/sj.jp.7211915

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.jp.7211915

Keywords

This article is cited by

Search

Advanced search

Quick links