Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.

doi:10.1016/j.ijcard.2016.01.052

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Article

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.

International journal of cardiology - 15 Mar 2016

Daumy Xavier, Amarouch Mohamed-Yassine, Lindenbaum Pierre, Bonnaud Stéphanie, Charpentier Eric, Bianchi Beatrice, Nafzger Sabine, Baron Estelle, Fouchard Swanny, Thollet Aurélie, Kyndt Florence, Barc Julien, Le Scouarnec Solena, Makita Naomasa, Le Marec Hervé, Dina Christian, Gourraud Jean-Baptiste, Probst Vincent, Abriel Hugues, Redon Richard, Schott Jean-Jacques

Abstract excerpt

BACKGROUND: Progressive cardiac conduction disease (PCCD) is one of the most common cardiac conduction disturbances. It has been causally related to rare mutations in several genes including SCN5A, SCN1B, TRPM4, LMNA and GJA5. METHODS AND RESULTS: In this study, by applying targeted next-generation sequencing (NGS) in 95 unrelated patients with PCCD, we have identified 13 rare variants in the TRPM4 gene, two of...

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Identifiers

PMID: 26820365
DOI: 10.1016/j.ijcard.2016.01.052

Genes

TRPM4
GJA5
LMNA

Variants

Provenance

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