Article
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.
European journal of human genetics : EJHG - 1 Nov 2025
Fabiani Marco, Micolonghi Caterina, Caroselli Silvia, Savio Camilla, Petrucci Simona, Tini Giacomo, Musumeci Beatrice, Pagannone Erika, De Fazio Ludovica, Germani Aldo, Visco Vincenzo, Pizzuti Antonio, Veneziano Liana, Marchionni Enrica, Mango Ruggiero, Pezzoli Laura, Bottillo Irene, Lucca Camilla, Scatigno Agnese, Goisis Lucrezia, Cappuccini Francesca, Ciccone Maria Pia, Ballerini Adelaide, Gozzini Alessia, Onofri Valerio, Cristalli Carlotta Pia, Latini Andrea, D'Angelantonio Daniela, Gualandi Francesca, Tortora Giada, Magliozzi Monia, Novelli Antonio, Rossi Cesare, Grammatico Paola, Sangiuolo Federica, Girolami Francesca, Iascone Maria, Olivotto Iacopo, Autore Camillo, Rubattu Speranza, Piane Maria
Abstract excerpt
MYBPC3 pathogenic variants are the most common cause of hypertrophic cardiomyopathy (HCM) and are associated with significant phenotypic heterogeneity. Despite their pathogenic potential, MYBPC3 founder variants persist within specific populations. This study investigates the MYBPC3 c.2309-2 A > G splice variant hypothesizing its founder origin in central Italy. The aim was to confirm the presence of a common...
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