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Article

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.

Scientific reports - 4 May 2022

Torrado Mario, Maneiro Emilia, Lamounier Junior Arsonval, Fernández-Burriel Miguel, Sánchez Giralt Sara, Martínez-Carapeto Ana, Cazón Laura, Santiago Elisa, Ochoa Juan Pablo, McKenna William J, Santomé Luis, Monserrat Lorenzo

Abstract excerpt

The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. Genetic testing of the proband and subsequent family screening revealed the presence of a rare variant in the MYBPC3 gene, c.3331-26T>G in intron 30, with evidence supporting cosegregation with the disease...

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Cardiomyopathy, Hypertrophic
Carrier Proteins
Cytoskeletal Proteins
Haploinsufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35508642
DOI: 10.1038/s41598-022-11159-y
PMCID: PMC9068804

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Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.PMID 35508642Read ↗

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