Abstract
The Marfan syndrome (MFS) is a prominent member of heritable disorders of connective tissue with manifestations involving primarily the skeletal, ocular and cardiovascular systems but also and less systematically investigated the lung, skin and integument, and dura. Over the last two decades, a considerable amount of clinical, molecular and protein data had accumulated. In combination with the study of natural and transgenic animal models, this new information provides greater insight into the pathogenic mechanisms underlying not only the pleiotropic manifestations of MFS but also the important degree of clinical variability (age of onset and severity) observed between patients. The following aspects will be described in this review: the structure and function of fibrillin-1; the fibrillin proteins; mutations in the FBN1 gene and pathogenic mechanisms; animal models. Finally, the currently available laboratory diagnostic tests and their limits will be discussed.
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Collod-Béroud, G., Boileau, C. Marfan syndrome in the third Millennium. Eur J Hum Genet 10, 673–681 (2002). https://doi.org/10.1038/sj.ejhg.5200876
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DOI: https://doi.org/10.1038/sj.ejhg.5200876
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