Abstract
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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Activin Receptors, Type I / genetics*
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Adolescent
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Adult
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Child
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Child, Preschool
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DNA Mutational Analysis
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Female
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Fibrillin-1
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Fibrillin-2
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Fibrillins
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Humans
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Male
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Marfan Syndrome / diagnosis
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Marfan Syndrome / genetics*
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Microfilament Proteins / genetics*
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Middle Aged
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Mutation
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Phenotype
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type I
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Receptor, Transforming Growth Factor-beta Type II
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Receptors, Transforming Growth Factor beta / genetics*
Substances
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FBN1 protein, human
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FBN2 protein, human
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Fibrillin-1
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Fibrillin-2
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Fibrillins
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Microfilament Proteins
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Receptors, Transforming Growth Factor beta
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Protein Serine-Threonine Kinases
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Activin Receptors, Type I
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Receptor, Transforming Growth Factor-beta Type I
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Receptor, Transforming Growth Factor-beta Type II
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TGFBR1 protein, human