An international study linking phenotypes and mutations in Marfan syndrome Mutations in FBN1, encloding fibrillin-1, cause Marfan syndrome and have been associated with a wide range of overlapping phenotypes.
The Universal Mutation Database, providing international FBN1 mutation data from 1013 patients, has permitted the establishment of a correlation between phenotypes and gene mutations.
The authors thus demonstrated that patients with a mutation producing a cysteine have a strong likelihood to present ectopia lentis.
A mutation causing premature termination codon had more severe skeletal and skin phenotype. Mutations in exons 24 and 32 are linked to more severe and complete phenotype, with cardiac anomalies and poor prognosis.
Read the PubMed abstract Am J Hum Genet ; 454-466 ; September 2007