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Netherlands Heart Journal
Erschienen in: Netherlands Heart Journal 5/2010

01.05.2010 | Review article

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

verfasst von: 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

Erschienen in: Netherlands Heart Journal | Ausgabe 5/2010

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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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Metadaten
Titel
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands
verfasst von
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
Publikationsdatum
01.05.2010
Verlag
Bohn Stafleu van Loghum
Erschienen in
Netherlands Heart Journal / Ausgabe 5/2010
Print ISSN: 1568-5888
Elektronische ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03091771

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