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Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene

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Diagnosis and Management of Marfan Syndrome

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Abstract

There have been several studies suggesting that FBN1 gene was responsible for the Marfan syndrome (MFS) phenotype [1–4] before announcing the localisation of the gene on chromosome 15q21.1 in 1991 [3, 5, 6]. Subsequently, many research laboratories started to screen FBN1 in their MFS patients. Many mutations have been mapped to this gene due to this increase in genetic screening and international collaborations confirming FBN1 as the gene responsible for Marfan syndrome [7–15]. This has been the final proof to confirm that the FBN1 gene is the cause of MFS.

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Authors and Affiliations

  1. Sonalee Laboratory, Cardiovascular and Cell Sciences Research Institute, St George’s, University of London, London, UK

    Jose Antonio Aragon-Martin PhD

  2. Cardiovascular and Cell Sciences Research Institute, St George’s, University of London, London, UK

    Anne H. Child MD, FRCP

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  1. Jose Antonio Aragon-Martin PhD
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Correspondence to Jose Antonio Aragon-Martin PhD .

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  1. Cardiovascular & Cell Sciences Research, St George's, University of London, London, United Kingdom

    Anne H. Child

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Aragon-Martin, J.A., Child, A.H. (2016). Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene. In: Child, A. (eds) Diagnosis and Management of Marfan Syndrome. Springer, London. https://doi.org/10.1007/978-1-4471-5442-6_22

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