Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

doi:10.1002/ajmg.c.31766

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Article

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2020

Delplancq Geoffroy, Tarris Georges, Vitobello Antonio, Nambot Sophie, Sorlin Arthur, Philippe Christophe, Carmignac Virginie, Duffourd Yannis, Denis Charlotte, Eicher Jean Christophe, Chevarin Martin, Millat Gilles, Khallouk Bouchra, Rousseau Thierry, Falcon-Eicher Sylvie, Vasiljevic Alexandre, Harizay Fara T, Thauvin-Robinet Christel, Faivre Laurence, Kuentz Paul

Abstract excerpt

PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant. The third-trimester obstetric...

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PMID: 31965688
DOI: 10.1002/ajmg.c.31766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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