genetics
Last reviewed 01/2018
- 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.