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Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 ( FBN1 ) gene, and mutations in  FBN1  are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes  TGFBR1  and  TGFBR2  identified in association with MFS-related phenotypes. It is now known that dysregulation of TGF-ß signaling is involved in MFS pathogenesis. To test the hypothesis that dysregulation of TGFBR3-associated TGF-ß signaling is implicated in MFS or related phenotype pathogenesis, we selected a cohort of 49 patients, fulfilling or nearly fulfilling the diagnostic criteria for MFS. The patients were known not to carry a mutation in the  FBN1  gene (including three 5' upstream alternatively spliced exons), the  TGFBR1  and  TGFBR2  genes. Mutation screening for the  TGFBR3  gene in these patients and in controls led to the identification of a total of ten exonic (one novel), four intronic (one novel) and one 3'UTR variant in the  TGFBR3  gene. Our data suggest that variations in  TGFBR3  gene appear not to be associated with MFS or related phenotype.

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome