Clinical Variability in Marfan Syndrome (Variarfan)
Marfan Syndrome
About this trial
This is an interventional basic science trial for Marfan Syndrome focused on measuring Marfan syndrome, Variability, Fibrillin 1, clinical expression
Eligibility Criteria
Inclusion Criteria:
- Man or woman > 18 years old
- With a mutation in FBN1 gene
- Has signed an informed consent form
Exclusion Criteria:
-No affiliated to a Healthcare System.
Sites / Locations
- Centre de Reference Maladie de Marfan Et Apparente
Arms of the Study
Arm 1
Arm 2
Other
Other
Marfan patients
control patients
Study participants were recruited between 11/2009 and 10/2011, among adult patients consulting in the Multidisciplinary Marfan Clinic of our University Hospital, and having a known mutation in the FBN1 gene. There, patients are evaluated by geneticists, rheumatologists, cardiologists, and ophthalmologists. Systematic slit-lamp examination, cardiac ultrasonography, and radiological investigations are also performed. A skin punch biopsy was used to establish a fibroblast cell culture. We determined mRNA levels for FBN1 and compared it to the clinical involvement.
Fibroblasts were obtained from non Marfan patients (cell bank). We determineed mRNA level for FBN1 for each allele.