Skip to main content
Mijn bibliotheek
Ga naar:
Nieuws Boeken Tijdschriften Toetsvragen Web-tv Video Audio
Tips voor Mijn BSL
BSL Shop
Inloggen

Welkom bij Erasmus MC & Bohn Stafleu van Loghum

Erasmus MC heeft ervoor gezorgd dat je Mijn BSL eenvoudig en snel kunt raadplegen. Je kunt je links eenvoudig registreren. Met deze gegevens kun je thuis, of waar ook ter wereld toegang krijgen tot Mijn BSL.

» Andere revante producten voor Erasmus MC studenten en medewerkers.

Registreer

Om ook buiten de locaties van Erasmus MC, thuis bijvoorbeeld, van Mijn BSL gebruik te kunnen maken, moet je jezelf eenmalig registreren. Dit kan alleen vanaf een computer op een van de locaties van Erasmus MC.

Eenmaal geregistreerd kun je thuis of waar ook ter wereld onbeperkt toegang krijgen tot Mijn BSL.

Login

Als u al geregistreerd bent, hoeft u alleen maar in te loggen om onbeperkt toegang te krijgen tot Mijn BSL.

Inloggen
Top
Netherlands Heart Journal
Gepubliceerd in:

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

Auteurs: 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

Gepubliceerd in: Netherlands Heart Journal | Uitgave 2/2010

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail
    Link delen
publish
Publiceer nu

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 …
vorige artikel Measure twice, cut once: pitfalls in the diagnosis of supraventricular tachycardia
volgende artikel Cardiac PET-CT: advanced hybrid imaging for the detection of coronary artery disease
Literatuur
1.
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.
2.
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.
3.
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.
4.
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.
5.
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.
6.
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.
7.
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.
8.
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.
9.
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.
10.
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.
11.
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.
12.
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.
13.
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.
14.
Annes JP, Munger JS, Rifkin DB. Making sense of latent TGFbeta activation. J Cell Sci. 2003;116:217–24.
15.
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.
16.
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.
17.
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.
18.
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.
19.
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.
20.
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.
22.
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.
Metagegevens
Titel
Recurrent and founder mutations in the Netherlands
Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation
Auteurs
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
Publicatiedatum
01-02-2010
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Netherlands Heart Journal / Uitgave 2/2010
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03091743

Andere artikelen Uitgave 2/2010

Mate for the heart: pulsatile or continuous?

  • editor’s page

An in vivo comparison of radiofrequency cardiac lesions formed by standard and magnetically steered 4 mm tip catheters

  • original article

Measure twice, think three times, cut once

  • editorial

Cardiac PET-CT: advanced hybrid imaging for the detection of coronary artery disease

  • review article

Entrainment mapping of ventricular tachycardia

  • imaging in cardiology

Measure twice, cut once: pitfalls in the diagnosis of supraventricular tachycardia

  • original article