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Rapid Communication | Open Access

A novel truncating variant in PRDM16 causes severe familial cardiomyopathy with variable clinical presentations

Yuan Chea, Lindsey Walkerb, Lillian Saua, Tingting Tanga, Wei Lia, Chao Shena, Nick Shillingfordc, Ramzi Bawabc, Jianjun Chena( ), Miao Sund( )
Department of Systems Biology and Center for RNA Biology and Therapeutics, Beckman Research Institute of City of Hope, Duarte, CA 91010, USA
Personalized Care, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA
Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA
Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA

Peer review under the responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 13 Issue 3,
May 2026
DOI: 10.1016/j.gendis.2025.101879

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Cite this article:
Che Y, Walker L, Sau L, et al. A novel truncating variant in PRDM16 causes severe familial cardiomyopathy with variable clinical presentations. Genes & Diseases, 2026, 13(3). https://doi.org/10.1016/j.gendis.2025.101879

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Received: 12 July 2025
Published: 13 October 2025
© 2025 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).