BACKGROUND: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). METHODS: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM. RESULTS: We identified 95 variants with allele frequency < 0.1% in population databases. MYBPC3 and TTN had the largest number of rare variants (17 variants each). A definite genetic etiology was found in 6 probands (13.3%), while inconclusive results due to either known or novel variants were established in 31 cases (68.9%). All disease-causing variants were detected in sarcomeric genes (MYBPC3 and MYH7 with two cases each, and one case in TNNI3 and TPM1 respectively). Multiple variants were detected in 27 subjects (60%), but no proband carried more than one causal variant. Of note, almost half of the rare variants were novel. CONCLUSIONS: Herein we reported for the first time the rare variants identified in core and putative genes associated with HCM in a cohort of Romanian unrelated adult patients. The clinical significance of most detected variants is yet to be established, additional studies based on segregation analysis being required for definite classification.
BACKGROUND: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). METHODS: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM. RESULTS: We identified 95 variants with allele frequency < 0.1% in population databases. MYBPC3 and TTN had the largest number of rare variants (17 variants each). A definite genetic etiology was found in 6 probands (13.3%), while inconclusive results due to either known or novel variants were established in 31 cases (68.9%). All disease-causing variants were detected in sarcomeric genes (MYBPC3 and MYH7 with two cases each, and one case in TNNI3 and TPM1 respectively). Multiple variants were detected in 27 subjects (60%), but no proband carried more than one causal variant. Of note, almost half of the rare variants were novel. CONCLUSIONS: Herein we reported for the first time the rare variants identified in core and putative genes associated with HCM in a cohort of Romanian unrelated adult patients. The clinical significance of most detected variants is yet to be established, additional studies based on segregation analysis being required for definite classification.
Authors: Berglind Adalsteinsdottir; Polakit Teekakirikul; Barry J Maron; Michael A Burke; Daniel F Gudbjartsson; Hilma Holm; Kari Stefansson; Steven R DePalma; Erica Mazaika; Barbara McDonough; Ragnar Danielsen; Jonathan G Seidman; Christine E Seidman; Gunnar T Gunnarsson Journal: Circulation Date: 2014-07-30 Impact factor: 29.690
Authors: Perry M Elliott; Aris Anastasakis; Michael A Borger; Martin Borggrefe; Franco Cecchi; Philippe Charron; Albert Alain Hagege; Antoine Lafont; Giuseppe Limongelli; Heiko Mahrholdt; William J McKenna; Jens Mogensen; Petros Nihoyannopoulos; Stefano Nistri; Petronella G Pieper; Burkert Pieske; Claudio Rapezzi; Frans H Rutten; Christoph Tillmanns; Hugh Watkins Journal: Eur Heart J Date: 2014-08-29 Impact factor: 29.983
Authors: Kiran Musunuru; Ray E Hershberger; Sharlene M Day; N Jennifer Klinedinst; Andrew P Landstrom; Victoria N Parikh; Siddharth Prakash; Christopher Semsarian; Amy C Sturm Journal: Circ Genom Precis Med Date: 2020-07-23
Authors: Pertti Jääskeläinen; Jagadish Vangipurapu; Joose Raivo; Teemu Kuulasmaa; Tiina Heliö; Katriina Aalto-Setälä; Maija Kaartinen; Erkki Ilveskoski; Sari Vanninen; Liisa Hämäläinen; John Melin; Jorma Kokkonen; Markku S Nieminen; Markku Laakso; Johanna Kuusisto Journal: ESC Heart Fail Date: 2019-02-18
Authors: Parisa K Kargaran; Jared M Evans; Sara E Bodbin; James G W Smith; Timothy J Nelson; Chris Denning; Diogo Mosqueira Journal: J Clin Med Date: 2020-07-23 Impact factor: 4.964
Authors: Róbert Sepp; Lidia Hategan; Beáta Csányi; János Borbás; Annamária Tringer; Eszter Dalma Pálinkás; Viktória Nagy; Hedvig Takács; Dóra Latinovics; Noémi Nyolczas; Attila Pálinkás; Réka Faludi; Miklós Rábai; Gábor Tamás Szabó; Dániel Czuriga; László Balogh; Róbert Halmosi; Attila Borbély; Tamás Habon; Zoltán Hegedűs; István Nagy Journal: Diagnostics (Basel) Date: 2022-05-03
Authors: Alexandru Al Ecovoiu; Attila Cristian Ratiu; Miruna Mihaela Micheu; Mariana Carmen Chifiriuc Journal: Int J Mol Sci Date: 2022-02-27 Impact factor: 5.923