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Article

Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.

Clinical genetics - 1 Jul 2024

Pham Caroline, Koopmann Tamara T, Vinocur Jeffrey M, Blom Nico A, Nogueira Silbiger Vivian, Mittal Kirti, Bootsma Marianne, Palm Kaylin C A, Clur Sally-Ann B, Barge-Schaapveld Daniela Q C M, Hamilton Robert M, Lodder Elisabeth M

Abstract excerpt

Genetic missense variants in TNNI3K, encoding troponin-I interacting kinase, have been associated with dilated cardiomyopathy (DCM) and observed in families with supraventricular tachycardias (SVT). Previously, a family harboring the TNNI3K-c.1615A > G (p.Thr539Ala) variant presented with congenital junctional ectopic tachycardia (CJET), an arrhythmia that arises from the atrioventricular (AV) node and His...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38424693
DOI: 10.1111/cge.14504

Genes

TNNI3K

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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