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01-05-2010 | Review article | Uitgave 5/2010

Netherlands Heart Journal 5/2010

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

Tijdschrift:
Netherlands Heart Journal > Uitgave 5/2010
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
Belangrijke opmerkingen
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, the Netherlands
* These authors contributed equally
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam; currently: University Medical Centre Utrecht, Utrecht, the Netherlands
Department of Cardiology, Erasmus Medical Centre, Rotterdam, the Netherlands
Department of Cardiology, Academic Medical Centre, Amsterdam, the Netherlands
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands
Department of Clinical Genetics, University Medical Centre Groningen, Groningen, the Netherlands
Department of Clinical Genetics, Academic Medical Centre, Amsterdam and University Medical Centre Groningen, Groningen, the Netherlands

Abstract

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.)

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Netherlands Heart Journal

Het Netherlands Heart Journal wordt uitgegeven in samenwerking met de Nederlandse Vereniging voor Cardiologie en de Nederlandse Hartstichting. Het tijdschrift is Engelstalig en wordt gratis beschikbaa ...

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