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.
Highlights
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease, caused by mutations in genes encoding for sarcomere proteins and transmitted in an autosomal dominant form.[1]
We recently performed 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
One patient had a mutation in MYH7, one in MYBPC3, one in MYL3, one was a TNNC1/ACTN2 double mutant and one in MYL2/TNNT2
Summary
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease, caused by mutations in genes encoding for sarcomere proteins and transmitted in an autosomal dominant form.[1]. Submitted: 17 February 2015 Accepted: 28 February 2015 a 2015 Jaafar, Girolami, Zairi, Kraiem, Hammami, Olivotto, licensee Bloomsbury Qatar Foundation Journals.
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