Síndrome de Marfan, mutaciones nuevas del gen FBN1

Abstract

Marfan syndrome (SM) is a systemic disorder caused by mutations in the extracellular matrix protein fibrillin 1 (FBN1). With a dominant autosomal pattern, SM patients are characterized by ocular, cardiovascular and skeletal involvement, all within a variable clinical spectrum. It has been suggested that the intrafamilial and interfamilial phenotypic variability, characteristic of the syndrome, occurs by the association of other mutations called driver mutations. Even though there is a clear genetic causation, the recently described driver mutations are not yet fully elucidated. We present a SM case with a mutation not previously described in the fibrilin 1 gene, applying the revised Ghent nosology and analyzing the role of this new mutation and of the driver mutations in the genesis of the disease.

The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders

“…Marfan syndrome (MFS) is one of the most common inherited disorders affecting connective tissue, with primary clinical manifestations in the skeletal, ocular, and cardiac systems [ 1 ]. Reduced survival is primarily due to aortic complications, such as aortic root dilatation and dissection.…”

“…Mutations in the fibrillin 1 ( FBN1 ) gene, which encodes fibrillin-1, are the leading cause of MFS and can be identified in 91%–95% of subjects with classic Marfan [ 3 ]. MFS is a multisystem genetic disease characterized by autosomal dominant inheritance and high penetrance, which can be considered 100% [ 1 ]. Patients with FBN1 mutations display a range of phenotypes from mild to severe.…”