Evidence map›Paper›PMID 41265451›Full record

ArticleAmerican journal of human genetics2025

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

Brandon Bresack, Laura Renée Kohl, Alexandra Afenjar, Frédérique Audic, Lydie Burglen, Perrine Charles, Nihal Olgac Dundar, Jiddeke van de Kamp, Keren Machol, Pilar Magoulas and 9 more

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Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

19 authors.

Brandon BresackInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
Laura Renée KohlInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
Alexandra AfenjarGenetics Department, Reference Centre for Cerebellar Malformations and Congenital Diseases and Molecular Neurogenetics Laboratory, AP-HP, Sorbonne University - Armand-Trousseau Children's Hospital, Paris 75012, France.
Frédérique AudicNeuropediatrics Service, AP-HM, CHU La Timone, Marseille 13005, France.
Lydie BurglenGenetics Department, Reference Centre for Cerebellar Malformations and Congenital Diseases and Molecular Neurogenetics Laboratory, AP-HP, Sorbonne University - Armand-Trousseau Children's Hospital, Paris 75012, France.
Perrine CharlesGenetics Department, Reference Centre for Neurogenetics, AP-HP, Sorbonne University - Pitié Salpêtrière Hospital, Paris 75651, France.
Nihal Olgac DundarDepartment of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, Izmir 35360, Türkiye.
Jiddeke van de KampDepartment of Human Genetics, Amsterdam UMC, Amsterdam 1081 BT, the Netherlands.
Keren MacholDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pilar MagoulasDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Odile Goze-MartineauNeuropediatrics Service, Reference Centre for Cerebellar Malformations and Congenital Diseases, CHU Lille - Roger Salengro Hospital, Lille 59000, France.
Mahdi MotazackerDepartment of Human Genetics, Amsterdam UMC, Amsterdam 1081 BT, the Netherlands.
Heike PhilippiCenter of Developmental Neurology, SPZ Frankfurt-Mitte, Frankfurt 60316, Germany.
Alejandra ReyesCENTOGENE GmbH, Rostock 18055, Germany.
Omar A Z TutakhelDepartment of Human Genetics, Amsterdam UMC, Amsterdam 1081 BT, the Netherlands.
Aida Bertoli-AvellaCENTOGENE GmbH, Rostock 18055, Germany.
Heinrich StichtInstitute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany. Electronic address: rami.aboujamra@medizin.uni-leipzig.de.
Henry OppermannInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany. Electronic address: henry.oppermann@medizin.uni-leipzig.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 heterozygous, mostly de novo variants in ESRRG: c.410G>A (p.Gly137Glu), c.446A>G (p.Lys149Arg), c.539G>A (p.Cys180Tyr), c.550C>T (p.Arg184Cys), c.1346T>G (p.Leu449Arg), and c.1352dup (p.Leu451Phefs

Indexed as

AtaxiaGenetic VariationMovement DisordersAdolescentCell ProliferationChildChild, PreschoolFemaleGenes, DominantHEK293 CellsHumansMaleMutationPedigreePhenotypeataxiaautosomal dominantestrogen-related receptor gammaloss of functionmovement disorder

Identifiers

PMID41265451
PMCPMC12808976

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.