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Article

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

Clinical genetics - 1 Jul 2026

Alabdi Lama, Cogne Benjamin, Almasood Ali S, Alsehly Abdullah, Helaby Rana, Maddirevula Sateesh, Besnard Thomas, Do Souto Laura, Isidor Bertrand, Alkuraya Fowzan S

Abstract excerpt

Pediatric dilated cardiomyopathy (DCM) carries high morbidity and mortality, with up to half of cases genetically unexplained. The mTORC1 nutrient sensing pathway is a critical regulator of cardiomyocyte homeostasis, yet no Mendelian DCM genes have been linked to its upstream regulator, GATOR2. WDR59 encodes a core WD-repeat subunit of GATOR2, but its cardiac role is unknown. We recruited six affected individuals...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41715954
DOI: 10.1111/cge.70151

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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