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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

L Faivre, G Collod-Beroud, A Child, Bert Callewaert (UGent) , Bart Loeys (UGent) , C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, et al.
(2008) JOURNAL OF MEDICAL GENETICS. 45(6). p.384-390
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Organization
Abstract
Background: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology. The number of FBN1 mutation carriers, at risk of aortic complications who would not be properly diagnosed based only on clinical grounds, is of growing importance owing to the increased availability of molecular screening. The aim of the study was to identify patients who should be considered for FBN1 mutation screening. Methods: Our international series included 1009 probands with a known FBN1 mutation. Patients were classified as either fulfilling or not fulfilling "clinical'' criteria. In patients with unfulfilled "clinical'' criteria, we evaluated the percentage of additional patients who became positive for international criteria when the FBN1 mutation was considered. The aortic risk was evaluated and compared in patients fulfilling or not fulfilling the "clinical'' international criteria. Results: Diagnosis of MFS was possible on clinical grounds in 79% of the adults, whereas 90% fulfilled the international criteria when including the FBN1 mutation. Corresponding figures for children were 56% and 85%, respectively. Aortic dilatation occurred later in adults with unfulfilled "clinical criteria'' when compared to the Marfan syndrome group (44% vs 73% at 40 years, p<0.001), but the lifelong risk for ascending aortic dissection or surgery was not significantly different in both groups. Conclusions: Because of its implications for aortic follow-up, FBN1 molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected. This is of utmost importance in patients without aortic dilatation and in children.
Keywords
THORACIC AORTIC-ANEURYSMS, FBN1 MUTATIONS, ECTOPIA-LENTIS, BETA RECEPTOR, GENE, PHENOTYPES, DATABASE, UPDATE

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MLA
Faivre, L., et al. “Contribution of Molecular Analyses in Diagnosing Marfan Syndrome and Type I Fibrillinopathies: An International Study of 1009 Probands.” JOURNAL OF MEDICAL GENETICS, vol. 45, no. 6, 2008, pp. 384–90, doi:10.1136/jmg.2007.056382.
APA
Faivre, L., Collod-Beroud, G., Child, A., Callewaert, B., Loeys, B., Binquet, C., … Jondeau, G. (2008). Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. JOURNAL OF MEDICAL GENETICS, 45(6), 384–390. https://doi.org/10.1136/jmg.2007.056382
Chicago author-date
Faivre, L, G Collod-Beroud, A Child, Bert Callewaert, Bart Loeys, C Binquet, E Gautier, et al. 2008. “Contribution of Molecular Analyses in Diagnosing Marfan Syndrome and Type I Fibrillinopathies: An International Study of 1009 Probands.” JOURNAL OF MEDICAL GENETICS 45 (6): 384–90. https://doi.org/10.1136/jmg.2007.056382.
Chicago author-date (all authors)
Faivre, L, G Collod-Beroud, A Child, Bert Callewaert, Bart Loeys, C Binquet, E Gautier, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, D Halliday, C Beroud, C Bonithon-Kopp, M Claustres, H Plauchu, PN Robinson, L Adès, Julie De Backer, Paul Coucke, U Francke, Anne De Paepe, C Boileau, and G Jondeau. 2008. “Contribution of Molecular Analyses in Diagnosing Marfan Syndrome and Type I Fibrillinopathies: An International Study of 1009 Probands.” JOURNAL OF MEDICAL GENETICS 45 (6): 384–390. doi:10.1136/jmg.2007.056382.
Vancouver
1.
Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys B, Binquet C, et al. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. JOURNAL OF MEDICAL GENETICS. 2008;45(6):384–90.
IEEE
[1]
L. Faivre et al., “Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands,” JOURNAL OF MEDICAL GENETICS, vol. 45, no. 6, pp. 384–390, 2008.
@article{432316,
  abstract     = {{Background: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology. The number of FBN1 mutation carriers, at risk of aortic complications who would not be properly diagnosed based only on clinical grounds, is of growing importance owing to the increased availability of molecular screening. The aim of the study was to identify patients who should be considered for FBN1 mutation screening.
Methods: Our international series included 1009 probands with a known FBN1 mutation. Patients were classified as either fulfilling or not fulfilling "clinical'' criteria. In patients with unfulfilled "clinical'' criteria, we evaluated the percentage of additional patients who became positive for international criteria when the FBN1 mutation was considered. The aortic risk was evaluated and compared in patients fulfilling or not fulfilling the "clinical'' international criteria.
Results: Diagnosis of MFS was possible on clinical grounds in 79% of the adults, whereas 90% fulfilled the international criteria when including the FBN1 mutation. Corresponding figures for children were 56% and 85%, respectively. Aortic dilatation occurred later in adults with unfulfilled "clinical criteria'' when compared to the Marfan syndrome group (44% vs 73% at 40 years, p<0.001), but the lifelong risk for ascending aortic dissection or surgery was not significantly different in both groups.
Conclusions: Because of its implications for aortic follow-up, FBN1 molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected. This is of utmost importance in patients without aortic dilatation and in children.}},
  author       = {{Faivre, L and Collod-Beroud, G and Child, A and Callewaert, Bert and Loeys, Bart and Binquet, C and Gautier, E and Arbustini, E and Mayer, K and Arslan-Kirchner, M and Stheneur, C and Kiotsekoglou, A and Comeglio, P and Marziliano, N and Halliday, D and Beroud, C and Bonithon-Kopp, C and Claustres, M and Plauchu, H and Robinson, PN and Adès, L and De Backer, Julie and Coucke, Paul and Francke, U and De Paepe, Anne and Boileau, C and Jondeau, G}},
  issn         = {{0022-2593}},
  journal      = {{JOURNAL OF MEDICAL GENETICS}},
  keywords     = {{THORACIC AORTIC-ANEURYSMS,FBN1 MUTATIONS,ECTOPIA-LENTIS,BETA RECEPTOR,GENE,PHENOTYPES,DATABASE,UPDATE}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{384--390}},
  title        = {{Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands}},
  url          = {{http://doi.org/10.1136/jmg.2007.056382}},
  volume       = {{45}},
  year         = {{2008}},
}
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