Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

doi:10.1016/j.jbc.2021.100854

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Article

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

The Journal of biological chemistry - 1 Jul 2021

Suay-Corredera Carmen, Pricolo Maria Rosaria, Herrero-Galán Elías, Velázquez-Carreras Diana, Sánchez-Ortiz David, García-Giustiniani Diego, Delgado Javier, Galano-Frutos Juan José, García-Cebollada Helena, Vilches Silvia, Domínguez Fernando, Molina María Sabater, Barriales-Villa Roberto, Frisso Giulia, Sancho Javier, Serrano Luis, García-Pavía Pablo, Monserrat Lorenzo, Alegre-Cebollada Jorge

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the pathogenicity status of hundreds of MYBPC3 variants found in patients remains unknown, as a consequence of our incomplete understanding of the pathomechanisms triggered by HCM-causing variants. Here, we examined...

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Identifiers

PMID: 34097875
DOI: 10.1016/j.jbc.2021.100854
PMCID: PMC8260873

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