Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy

Roberta Roncarati, Michael V G Latronico, Beatrice Musumeci, Stefania Aurino, Annalaura Torella, Marie Louise Bang, Gloria Saccani Jotti, Annibale A. Puca, Massimo Volpe, Vincenzo Nigro, Camillo Autore, Gianluigi Condorelli

Research output: Contribution to journalArticlepeer-review

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (MYH7) and cardiac myosin binding protein C (MYBPC3) reported as the most frequently mutated: in fact, these account for around 50% of all cases related to sarcomeric gene mutations, which are collectively responsible for approximately 70% of all HCM cases. Here, we used denaturing high-performance liquid chromatography followed by bidirectional sequencing to screen the coding regions of MYH7 and MYBPC3 in a cohort (n=125) of Italian patients presenting with HCM. We found 6 MHY7 mutations in 9/125 patients and 18 MYBPC3 mutations in 19/125 patients. Of the three novel MYH7 mutations found, two were missense, and one was a silent mutation; of the eight novel MYBPC3 mutations, one was a substitution, three were stop codons, and four were missense mutations. Thus, our cohort of Italian HCM patients did not harbor the high frequency of mutations usually found in MYH7 and MYBPC3. This finding, coupled to the clinical diversity of our cohort, emphasizes the complexity of HCM and the need for more inclusive investigative approaches in order to fully understand the pathogenesis of this disease.

Original languageEnglish
Pages (from-to)2894-2900
Number of pages7
JournalJournal of Cellular Physiology
Volume226
Issue number11
DOIs
Publication statusPublished - Nov 2011

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Cell Biology
  • Physiology

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