[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome]

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue characterized by skeletal, ocular and cardiovascular manifestations. The disease is caused by mutations in the FBN1 gene, encoding fibrillin, an important component of elastic fibers. Diagnosis of Marfan syndrome is currently based on detailed clinical examination and/or mutation analysis in the fibrillin gene. Clinical expression varies widely both among and within families, rendering clinical diagnosis extremely difficult. In this study, we performed segregation analysis of allelic DNA polymorphisms to support diagnosis of Marfan syndrome. This type of genotype analysis is a useful, additional diagnostic tool for families with Marfan syndrome and provides incremental information of diagnosis or exclusion of Marfan syndrome based on clinical findings.