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

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Item Type:	Article
Title:	Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy
Creators Name:	Posch, M.G., Thiemann, L., Tomasov, P., Veselka, J., Cardim, N., Garcia-Castro, M., Coto, E., Perrot, A., Geier, C., Dietz, R., 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
ISSN:	1234-1010
Publisher:	Medical Science International Publishing
Volume:	14
Number:	7
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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