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Article

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.

American journal of human genetics - 4 Dec 2025

Bresack Brandon, Kohl Laura Renée, Afenjar Alexandra, Audic Frédérique, Burglen Lydie, Charles Perrine, Dundar Nihal Olgac, van de Kamp Jiddeke, Machol Keren, Magoulas Pilar, Goze-Martineau Odile, Motazacker Mahdi, Philippi Heike, Reyes Alejandra, Tutakhel Omar A Z, Bertoli-Avella Aida, Sticht Heinrich, Abou Jamra Rami, Oppermann Henry

Abstract excerpt

The orphan nuclear hormone receptor estrogen-related receptor γ (ESRRG, also known as ERRγ) functions as an inducible transcription factor, regulating the expression of endocrine and metabolic genes. Among its ESRR paralogs, ESRRG exhibits the highest mutational constraint, yet it remains unlinked to a defined disease phenotype. We clinically describe eight individuals from seven unrelated families having...

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Identifiers

PMID: 41265451
DOI: 10.1016/j.ajhg.2025.10.015
PMCID: PMC12808976

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ESRRG

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