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Netherlands Heart Journal
Published in: Netherlands Heart Journal 2/2010

01-02-2010 | review article

Recurrent and founder mutations in the Netherlands

Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

Authors: J. J. J. Aalberts, A. G. Schuurman, G. Pals, B. J. C. Hamel, G. Bosman, Y. Hilhorst-Hofstee, D. Q. C. M. Barge-Schaapveld, B. J. M. Mulder, M. P. van den Berg, J. P. van Tintelen

Published in: Netherlands Heart Journal | Issue 2/2010

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Extract

Marfan syndrome (MFS) is a heritable connective tissue disorder primarily involving the ocular, skeletal and the cardiovascular system.1 The diagnosis is made according to the Ghent nosology (table 1).1 Typical characteristics of MFS are dolichostenomelia (thin body habitus and long extremities), ectopia lentis (lens (sub-)luxation), pectus carinatum/excavatum, and aortic root dilatation.1,2 There is, however, extensive variability in the phenotype of MFS patients, both between and within affected families.3-5 The prevalence of MFS is relatively low, approximately 1:5000, but considering the great clinical heterogeneity less typical patients may well remain undiagnosed.6 …
Literature
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De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417–26.
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Rand-Hendriksen S, Lundby R, Tjeldhorn L, Andersen K, Offstad J, Semb SO, et al. Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome. Eur J Hum Genet. 2009; ahead of print: 1–9.
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De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007;72:188–98.
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Giusti B, Porciani MC, Brunelli T, Evangelisti L, Fedi S, Gensini GF, et al. Phenotypic variability of cardiovascular manifestations in Marfan syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism. Eur Heart J. 2003;24:2038–45.
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Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, et al. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Hum Mol Genet. 2003;12:2269–76.
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Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D Pyeritz R. Report of the National Heart, Lung, and Blood institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 2008;118:785–91.
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Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai YL, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337–9.
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Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JCS, et al. Life expectancy in British Marfan syndrome populations. Clin Genet. 1998;54:124–8.
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Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36:855–60.
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Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys Dietz syndrome. Hum Mutat. 2006;27:770–7.
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Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, et al. Comprehensive genetic analysis of four relevant genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet. 2006;140:1719–25.
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Mátyás G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat. 2002;19:443–56.
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Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33:407–11.
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Annes JP, Munger JS, Rifkin DB. Making sense of latent TGFbeta activation. J Cell Sci. 2003;116:217–24.
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Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, et al. TGF-beta dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest. 2004;114:1586–92.
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Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117–21.
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Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009;123:391–8.
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Faivre L, Collod-Béroud G, Child A, Callewaert B, Loeys BL, Binquet C, et al. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet. 2008;45:384–90.
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Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006;43:769–87.
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Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Koko L, Booms P, Child A, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003;22:198–208.
21.
De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007;72:188–98.
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Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJM, Timmermans J, Pals G, et al. Compound-heterozygous Marfan syndrome. Eur J Med Genet. 2009;52:1–5.
Metadata
Title
Recurrent and founder mutations in the Netherlands
Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation
Authors
J. J. J. Aalberts
A. G. Schuurman
G. Pals
B. J. C. Hamel
G. Bosman
Y. Hilhorst-Hofstee
D. Q. C. M. Barge-Schaapveld
B. J. M. Mulder
M. P. van den Berg
J. P. van Tintelen
Publication date
01-02-2010
Publisher
Bohn Stafleu van Loghum
Published in
Netherlands Heart Journal / Issue 2/2010
Print ISSN: 1568-5888
Electronic ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03091743

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