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Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.
MedLine Citation:
PMID:  20505798     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
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.).
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
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation     Volume:  18     ISSN:  1876-6250     ISO Abbreviation:  Neth Heart J     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-05-27     Completed Date:  2011-07-14     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101095458     Medline TA:  Neth Heart J     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  248-54     Citation Subset:  -    
Affiliation:
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, the Netherlands These authors contributed equally.
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