title: Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?
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.
authors.affiliation: Biochemistry Laboratory, LR12ES05 'Nutrition-Functional Food & Vascular Health', USCR Mass Spectrometry, Faculty of Medicine, University of Monastir, Tunisia.
authors.forename: Nawel
authors.initials: N
authors.lastname: Jaafar
authors.affiliation: Genetic Diagnostics Unit, Careggi University Hospital, Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Girolami
authors.affiliation: Department of Cardiology, Habib Thameur Hospital, Tunis, Tunisia.
authors.forename: Ihsen
authors.initials: I
authors.lastname: Zairi
authors.affiliation: Department of Cardiology, Habib Thameur Hospital, Tunis, Tunisia.
authors.forename: Sondes
authors.initials: S
authors.lastname: Kraiem
authors.affiliation: Biochemistry Laboratory, LR12ES05 'Nutrition-Functional Food & Vascular Health', USCR Mass Spectrometry, Faculty of Medicine, University of Monastir, Tunisia.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Hammami
authors.affiliation: Referral Center for Cardiomyopathies, Careggi University Hospital, Florence, Italy.
authors.forename: Iacopo
authors.initials: I
authors.lastname: Olivotto