Cohort (n=49)
FBN1 mutations are the predominant genetic cause of Marfan syndrome, while TGFBR1 and TGFBR2 mutations account for approximately 5-10% of cases and may present with overlapping features of Loeys-Dietz syndrome.
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Supports FBN1-first testing in suspected Marfan syndrome; confirms predominance but leaves TGFBR roles open for larger validation.
In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 FBN1 mutations (22 novel) in 27 patients (55%, 27/49), 1 novel TGFBR1 mutation in 1 (2%, 1/49), and 2 recurrent TGFBR2 mutations in 2 (4%, 2/49) were identified. No FBN2 mutation was found. Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that FBN1 mutations were predominant in MFS but TGFBRs defects may account for approximately 5-10% of patients with the syndrome.
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Sakai et al. (2006) conducted a cohort in Marfan syndrome or Marfan-related phenotypes (n=49). Direct sequencing of FBN1, FBN2, TGFBR1, and TGFBR2 genes was evaluated on Identification of mutations in FBN1, FBN2, TGFBR1, and TGFBR2.
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