We hope to better characterize the inter and intrafamilial variation of the clinical findings seen in Marfan Syndrome. Marfan Syndrome is an autosomal dominant disorder of connective tissue. Fibrillin-1, the gene, for this disorder is on chromosome #15.
We shall be looking for specific mutations in the 70 families we follow at The New York Hospital and hope to replicate the mutations in a mouse model. This will enable us to describe the effect of specific mutations in various body tissues.