AIMS: Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes that encode sarcomeric proteins. In this study we investigated the involvement of the sarcomeric myosin binding protein C in the Dutch HCM population. METHODS AND RESULTS: We initially screened 22 Dutch index patients for mutations in the MYBPC3 gene, which revealed four different mutations in 14 patients. The 2373insG mutation was identified in 10 apparently unrelated patients. A subsequent screening for the 2373insG mutation in a group of another 237 unrelated HCM patients revealed 50 additional carriers of the same genetic defect. Genotyping with polymorphic repeat markers and intragenic SNPs of the 60 Dutch as well as two German and five North American 2373insG carriers indicated they all share the same haplotype. CONCLUSION: The 2373insG mutation accounts for almost one-fourth of all HCM cases in the Netherlands (60/259), which is predominantly present in the northwestern part of the country (22/66) and is a founder mutation probably originating from the Netherlands.
AIMS: Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes that encode sarcomeric proteins. In this study we investigated the involvement of the sarcomeric myosin binding protein C in the Dutch HCM population. METHODS AND RESULTS: We initially screened 22 Dutch index patients for mutations in the MYBPC3 gene, which revealed four different mutations in 14 patients. The 2373insG mutation was identified in 10 apparently unrelated patients. A subsequent screening for the 2373insG mutation in a group of another 237 unrelated HCM patients revealed 50 additional carriers of the same genetic defect. Genotyping with polymorphic repeat markers and intragenic SNPs of the 60 Dutch as well as two German and five North American 2373insG carriers indicated they all share the same haplotype. CONCLUSION: The 2373insG mutation accounts for almost one-fourth of all HCM cases in the Netherlands (60/259), which is predominantly present in the northwestern part of the country (22/66) and is a founder mutation probably originating from the Netherlands.
Authors: 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 Journal: Neth Heart J Date: 2010-05 Impact factor: 2.380
Authors: Diederik W D Kuster; Thomas L Lynch; David Y Barefield; Mayandi Sivaguru; Gina Kuffel; Michael J Zilliox; Kyoung Hwan Lee; Roger Craig; Rajasekaran Namakkal-Soorappan; Sakthivel Sadayappan Journal: Cardiovasc Res Date: 2019-12-01 Impact factor: 10.787
Authors: I A W van Rijsingen; J F Hermans-van Ast; Y H J M Arens; S M Schalla; C E M de Die-Smulders; A van den Wijngaard; Y M Pinto Journal: Neth Heart J Date: 2009-12 Impact factor: 2.380
Authors: Tjeerd Germans; Iris K Rüssel; Marco J W Götte; Marieke D Spreeuwenberg; Pieter A Doevendans; Yigal M Pinto; Rob J van der Geest; Jolanda van der Velden; Arthur A M Wilde; Albert C van Rossum Journal: J Cardiovasc Magn Reson Date: 2010-03-15 Impact factor: 5.364