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Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy

Item Type:Article
Title:Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy
Creators Name:Posch, M.G. and Thiemann, L. and Tomasov, P. and Veselka, J. and Cardim, N. and Garcia-Castro, M. and Coto, E. and Perrot, A. and Geier, C. and Dietz, R. and Haverkamp, W. and Oezcelik, C.
Abstract:Background: Familial hypertrophic cardiomyopathy (HCM) is an allelic cardiac disorder characterized by increased ventricular wall mass and sudden cardiac death. A variety of dominant single-gene mutations in sarcomeric genes have been identified, indicating a highly heterogeneous genetic etiology. MYOZ2 encodes for sarcomeric calsarcin-1 located in the myocardial z-disc, a focal point of HCM disease genes. Very recently mutations in MYOZ2 were reported as a cause for HCM. To assess the prevalence of MYOZ2 mutations among European HCM patients, coding exons weree analyzed for genetic variants in 438 patients. Material/Methods: Four hundred thirty-eight patients with HCM in four European cardiovascular centers were recruited. The coding region of MYOZ2 was directly sequenced in all the HCM subjects. Results: Two non-synonymous polymorphisms in exon 2 (rs17851524) and exon 5 (rs7687613) of MYOZ2 were identified in eight and twenty-two patients, respectively. However, no disease-causing mutations could be identified in this large cohort of HCM patients. Conclusions: Although a large cohort of more than 400 patients with familial HCM was screened, a disease-associated mutation in MYOZ2 was not identified. When these results are combined with previous reports, it can be concluded that MYOZ2 mutations are rare causes of familial HCM.
Keywords:Cardiomyopathy, Myozenin, Calsarcin
Source:Medical Science Monitor
Publisher:Medical Science International Publishing (Poland)
Page Range:CR372-CR374
Date:1 July 2008
Official Publication:http://www.medscimonit.com/fulltxt.php?ICID=863666
PubMed:View item in PubMed

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