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Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Human mutation - 1 Jan 2026

Martino Stefania, Doimo Mara, Iacoviello Matteo, Giovine Caterina, Stella Alessandro, Forleo Cinzia, Bagnulo Rosanna, Lenato Gennaro Mariano, Guaricci Andrea Igoren, Trevisson Eva, Resta Nicoletta

Abstract excerpt

CTNNA3 encodes αT-catenin, an intercalated disc (ICD) protein essential for cardiomyocyte coupling. Human omics studies have shown reduced CTNNA3 expression, ICD ultrastructural disruption, and dilated cardiomyopathy (DCM)-associated hyperphosphorylation of αT-catenin. Direct RNA-level evidence linking biallelic CTNNA3 variants to human cardiomyopathy has been lacking. Clinical exome sequencing was performed in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42471840
DOI: 10.1155/humu/2079958
PMCID: PMC13379898

Genes

CTNNA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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