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Volume 2015, Issue 1
  • ISSN: 2305-7823
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Abstract

We recently performed next generation sequencing (NGS) genetic screening in 11 consecutive and unrelated Tunisian HCM probands seen at Habib Thameur Hospital in Tunis in the first 6 months of 2014, as part of a cooperative study between our Institutions. The clinical diagnosis of HCM was made according to standard criteria. Using the Illumina platform, a panel of 12 genes was analyzed including myosin binding protein C (MYBPC3), beta-myosin heavy chain (MYH7), regulatory and essential light chains (MYL2 and MYL3), troponin-T (TNNT2), troponin-I (TNNI3), troponin-C (TNNC1), alpha-tropomyosin (TPM1), alpha-actin (ACTC1), alpha-actinin-2 (ACTN2) as well as alfa-galactosidase (GLA), 5′-AMP-activated protein (PKRAG2), transthyretin (TTR) and lysosomal-associated membrane protein-2 (LAMP2) for exclusion of phenocopies. Our preliminary data, despite limitations inherent to the small sample size, suggest that HCM in Tunisia may have a peculiar genetic background which privileges rare genes overs the classic HCM-associated MHY7 and MYBPC3 genes.

© 2015 Jaafar, Girolami, Zairi, Kraiem, Hammami, Olivotto, licensee Bloomsbury Qatar Foundation Journals.
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2015-03-16
2024-11-07
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/content/journals/10.5339/gcsp.2015.16
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Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?
Global Cardiology Science and Practice 2015, 16 (2015); https://doi.org/10.5339/gcsp.2015.16
/content/journals/10.5339/gcsp.2015.16
/content/journals/10.5339/gcsp.2015.16
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  • Article Type: Research Article
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