Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

Imke Christiaans*, Eline A. Nannenberg, Dennis Dooijes, R. J. E. Jongbloed, Michelle Michels, Pieter G. Postema, Danielle Majoor-Krakauer, A. van den Wijngaard, Marcel M. A. M. Mannens, J. Peter van Tintelen, Irene M. van Langen, Arthur A. M. Wilde

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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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.)
Original languageEnglish
Pages (from-to)248-254
JournalNetherlands Heart Journal
Volume18
Issue number5
DOIs
Publication statusPublished - May 2010

Keywords

  • Cardiomyopathy
  • Founder Effect
  • Mutation
  • Myosin-binding Protein C

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