The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
Copyright policy )The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
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.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.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.
- Charité - University Medicine Berlin Germany
- Amsterdam UMC Netherlands
- University of Groningen Netherlands
- Erasmus University Rotterdam Netherlands
- Academic Medical Center Netherlands
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Male, haplotype, Genotype, Cardiomyopathy, genotype, Mutation, Missense, male, single nucleotide polymorphism, Cardiomyopathy, Hypertrophic, Familial, Humans, gene mutation, human, Founder mutation, gene, myosin binding protein c3 gene, Netherlands, clinical article, article, genetic screening, hypertrophic cardiomyopathy, heterozygote, Founder Effect, unclassified drug, Pedigree, sarcomeric protein, female, founder effect, Myosin binding protein C, priority journal, Hypertrophic, founder mutation, Female, protein, Carrier Proteins
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