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Article

Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency.

Journal of molecular medicine (Berlin, Germany) - 1 Nov 2025

Billon Clarisse, Millat Gilles, Goudal Adeline, Malan Valerie, Khraiche Diala, Wahbi Karim, Ferrier Nadine, Eicher Jean-Christophe, Tixier Romain, Benbrik Nadir, Bouchot Océane, Gaudillat Léa, Venisse Annabelle, Berthome Pascaline, Jeunemaitre Xavier, Bonnet Damien

Abstract excerpt

PRDM16 has been identified as a potential causal gene for cardiomyopathies, supported by reports of several cases associated with loss-of-function (LoF) variants in PRDM16. In this multi-centric study, we present the largest cohort to date of dilated cardiomyopathy (DCM) patients harboring PRDM16 LoF variants, including eleven previously unreported cases. Genetic testing was conducted by three French molecular...

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Source

Identifiers

PMID: 40935858
DOI: 10.1007/s00109-025-02586-1

Genes

PRDM16

Provenance

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

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