The 2373insG founder mutation in the MYBPC3 gene accounts for nearly one-fourth (60/259) of all hypertrophic cardiomyopathy cases in the Netherlands.
Observational (n=259)
Yes
The 2373insG mutation in the MYBPC3 gene is a major founder mutation responsible for nearly 25% of hypertrophic cardiomyopathy cases in 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.
Mariëlle Alders (2003) conducted an observational in Hypertrophic cardiomyopathy (HCM) (n=259). MYBPC3 gene mutation screening was evaluated on Presence of the 2373insG mutation. The 2373insG founder mutation in the MYBPC3 gene accounts for nearly one-fourth (60/259) of all hypertrophic cardiomyopathy cases in the Netherlands.