TY - JOUR
T1 - Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands
AU - Christiaans, Imke
AU - Nannenberg, Eline A.
AU - Dooijes, Dennis
AU - Jongbloed, R. J. E.
AU - Michels, Michelle
AU - Postema, Pieter G.
AU - Majoor-Krakauer, Danielle
AU - van den Wijngaard, A.
AU - Mannens, Marcel M. A. M.
AU - van Tintelen, J. Peter
AU - van Langen, Irene M.
AU - Wilde, Arthur A. M.
PY - 2010/5
Y1 - 2010/5
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.)
KW - Cardiomyopathy
KW - Founder Effect
KW - Mutation
KW - Myosin-binding Protein C
U2 - 10.1007/BF03091771
DO - 10.1007/BF03091771
M3 - Article
C2 - 20505798
SN - 1568-5888
VL - 18
SP - 248
EP - 254
JO - Netherlands Heart Journal
JF - Netherlands Heart Journal
IS - 5
ER -