Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?

Global Cardiology Science & Practice
Nawel JaafarIacopo Olivotto

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.

References

Apr 3, 2010·Journal of the American College of Cardiology·Francesca GirolamiIacopo Olivotto
Sep 11, 2012·Annales de cardiologie et d'angéiologie·M AlloucheM Hamdoun
Nov 30, 2012·Cardiovascular Journal of Africa·A O Falase, O S Ogah
Dec 13, 2012·Journal of Cardiovascular Translational Research·Heba Sh KassemMagdi H Yacoub
Jul 7, 2014·Journal of the American College of Cardiology·Barry J MaronMartin S Maron
Sep 15, 2014·Trends in Cardiovascular Medicine·Martin S Maron

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Citations

Aug 31, 2016·Genetic Testing and Molecular Biomarkers·Nawel JaafarEliecer Coto
Feb 27, 2017·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Amanda M DossatMohamed Kabbaj
Oct 6, 2020·Cardiology in the Young·Rania K DarwishDina A Mehaney

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Software Mentioned

Alamut

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