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2014 | OriginalPaper | Hoofdstuk

6. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands*

Auteurs : I. Christiaans, E.A. Nannenberg, D. Dooijes, R.J.E. Jongbloed, M. Michels, P.G. Postema, D. Majoor-Krakauer, A. van den Wijngaard, M.M.A.M. Mannens, J.P. van Tintelen, I.M. van Langen, A.A.M. Wilde

Gepubliceerd in: Founder mutations in inherited cardiac diseases in the Netherlands

Uitgeverij: Bohn Stafleu van Loghum

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Samenvatting

In this part of a series on cardiogenetic founder mutations in the Netherlands, we review the Dutch founder mutations in hypertrophic cardiomyopathy (HCM) patients.
HCM is a common autosomal dominant genetic disease affecting at least one in 500 persons in the general population. Worldwide, most mutations in HCM patients are identified in genes encoding sarcomeric proteins, mainly in the myosin-binding protein C gene (MYBPC3, OMIM #600958) and the beta myosin heavy chain gene (MYH7, OMIM #160760). In the Netherlands, the great majority of mutations occur in the MYBPC3, involving mainly three Dutch founder mutations in the MYBPC3 gene, the c.2373_2374insG, the c.2864_2865delCT and the c.2827C>T mutation. In this review, we describe the genetics of HCM, the genotype-phenotype relation of Dutch founder MYBPC3 gene mutations, the prevalence and the geographic distribution of the Dutch founder mutations, and the consequences for genetic counselling and testing. (Neth Heart J 2010;18:248-54.)
vorige hoofdstuk Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6*
volgende hoofdstuk Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy*
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Metagegevens
Titel
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands*
Auteurs
I. Christiaans
E.A. Nannenberg
D. Dooijes
R.J.E. Jongbloed
M. Michels
P.G. Postema
D. Majoor-Krakauer
A. van den Wijngaard
M.M.A.M. Mannens
J.P. van Tintelen
I.M. van Langen
A.A.M. Wilde
Copyright
2014
Uitgeverij
Bohn Stafleu van Loghum
Boek
Founder mutations in inherited cardiac diseases in the Netherlands

Print ISBN: 978-90-368-0704-3

Elektronisch ISBN: 978-90-368-0705-0

Copyright: 2014

DOI
https://doi.org/10.1007/978-90-368-0705-0_6