Abstract | BACKGROUND: METHODS: The authors identified TGFBR1 missense mutations in multigenerational families with TAAD by DNA sequencing. Clinical features of affected individuals were assessed and compared with clinical features of previously described TGFBR2 families. RESULTS: Statistical analyses of the clinical features of the TGFBR1 cohort ( n = 30) were compared with clinical features of TGFBR2 cohort (n = 77). Significant differences were identified in clinical presentation and survival based on gender in TGFBR1 families but not in TGFBR2 families. In families with TGFBR1 mutations, men died younger than women based on Kaplan-Meier survival curves. In addition, men presented with TAAD and women often presented with dissections and aneurysms of arteries other than the ascending thoracic aorta. The data also suggest that individuals with TGFBR2 mutations are more likely to dissect at aortic diameters <5.0 cm than individuals with TGFBR1 mutations. CONCLUSION: This study is the first to demonstrate clinical differences between patients with TGFBR1 and TGFBR2 mutations. These differences are important for the clinical management and outcome of vascular diseases in these patients.
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Authors | V Tran-Fadulu, H Pannu, D H Kim, G W Vick 3rd, C M Lonsford, A L Lafont, C Boccalandro, S Smart, K L Peterson, J Zenger Hain, M C Willing, J S Coselli, S A LeMaire, C Ahn, P H Byers, D M Milewicz |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 46
Issue 9
Pg. 607-13
(Sep 2009)
ISSN: 1468-6244 [Electronic] England |
PMID | 19542084
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- Receptors, Transforming Growth Factor beta
- Protein Serine-Threonine Kinases
- Receptor, Transforming Growth Factor-beta Type I
- Receptor, Transforming Growth Factor-beta Type II
- TGFBR1 protein, human
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Topics |
- Adolescent
- Adult
- Aortic Dissection
(genetics)
- Aortic Aneurysm, Thoracic
(genetics)
- Chi-Square Distribution
- Cohort Studies
- Family Health
- Female
- Genetic Predisposition to Disease
- Humans
- Kaplan-Meier Estimate
- Magnetic Resonance Angiography
- Male
- Middle Aged
- Mutation, Missense
- Pedigree
- Protein Serine-Threonine Kinases
(genetics)
- Receptor, Transforming Growth Factor-beta Type I
- Receptor, Transforming Growth Factor-beta Type II
- Receptors, Transforming Growth Factor beta
(genetics)
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