Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

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

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

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

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

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

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 language	English
Title of host publication	Founder Mutations in Inherited Cardiac Diseases in the Netherlands
Publisher	Bohn Stafleu von Loghum
Pages	37-42
Number of pages	6
ISBN (Electronic)	9789036807050
ISBN (Print)	9036807042, 9789036807043
DOIs	https://doi.org/10.1007/978-90-368-0705-0_6
Publication status	Published - 1 Nov 2014

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Christiaans, I., Nannenberg, E. A., Dooijes, D., Jongbloed, R. J. E., Michels, M., Postema, P. G., Majoor-Krakauer, D., Van Den Wijngaard, A., Mannens, M. M. A. M., Van Tintelen, J. P., Van Langen, I. M., & Wilde, A. A. M. (2014). Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. In Founder Mutations in Inherited Cardiac Diseases in the Netherlands (pp. 37-42). Bohn Stafleu von Loghum. https://doi.org/10.1007/978-90-368-0705-0_6

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title = "Founder mutations in hypertrophic cardiomyopathy patients in 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.).",

author = "I. Christiaans and Nannenberg, {E. A.} and D. Dooijes and Jongbloed, {R. J.E.} and M. Michels and Postema, {P. G.} and D. Majoor-Krakauer and {Van Den Wijngaard}, A. and Mannens, {M. M.A.M.} and {Van Tintelen}, {J. P.} and {Van Langen}, {I. M.} and Wilde, {A. A.M.}",

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Christiaans, I, Nannenberg, EA, Dooijes, D, Jongbloed, RJE, Michels, M, Postema, PG, Majoor-Krakauer, D, Van Den Wijngaard, A, Mannens, MMAM, Van Tintelen, JP, Van Langen, IM & Wilde, AAM 2014, Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. in Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu von Loghum, pp. 37-42. https://doi.org/10.1007/978-90-368-0705-0_6

TY - CHAP

T1 - Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

AU - Christiaans, I.

AU - Nannenberg, E. A.

AU - Dooijes, D.

AU - Jongbloed, R. J.E.

AU - Michels, M.

AU - Postema, P. G.

AU - Majoor-Krakauer, D.

AU - Van Den Wijngaard, A.

AU - Mannens, M. M.A.M.

AU - Van Tintelen, J. P.

AU - Van Langen, I. M.

AU - Wilde, A. A.M.

PY - 2014/11/1

Y1 - 2014/11/1

N2 - 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.).

AB - 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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SN - 9789036807043

SP - 37

EP - 42

BT - Founder Mutations in Inherited Cardiac Diseases in the Netherlands

PB - Bohn Stafleu von Loghum

ER -

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

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