@article{hbkup:/content/journals/10.5339/gcsp.2015.16, author = "Jaafar, Nawel and Girolami, Francesca and Zairi, Ihsen and Kraiem, Sondes and Hammami, Mohamed and Olivotto, Iacopo", title = "Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?", journal= "Global Cardiology Science and Practice", year = "2015", volume = "2015", number = "1", pages = "", doi = "https://doi.org/10.5339/gcsp.2015.16", url = "https://www.qscience.com/content/journals/10.5339/gcsp.2015.16", publisher = "Hamad bin Khalifa University Press (HBKU Press)", issn = "2305-7823", type = "Journal Article", eid = "16", 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.", }