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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

  • inherited in an autosomal dominant pattern in males and females equally
  • a child of an affected parent has a 50% chance of inheriting Marfan syndrome
  • in 91% of classically affected patients, a causative mutation in the fibrillin-1 gene, can be demonstrated
    • fibrillin-1 codes for a connective tissue protein
  • most mutations are unique to that pedigree
  • mutations in genes encoding proteins that interact with fibrillin, have been identified in some patients with Marfan-like syndromes
  • genetic testing can be used to confirm the diagnosis, and for family screening, prenatal diagnosis, and even pre-implantation genetic diagnosis

Reference:

  • 1) BHF (November 2009). Marfan syndrome.

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