De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

doi:10.1038/s41431-026-02017-w

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Article

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

European journal of human genetics : EJHG - 1 Apr 2026

Jost Céline, Busa Tiffany, Wegner Daniel, Shinawi Marwan, Schaefer Elise, Piton Amélie, Schluth-Bolard Caroline, Charles Perrine, Keren Boris, Mayerhanser Katharina, Brunet Theresa, Schatz Ulrich, Neil Jennifer E, Walsh Christopher A, Sisco Kathleen, J Paul Alexander, Lee Chung, Dykzeul Natalie, Bonner Devon, Bernstein Jonathan A, Sutcliffe Erin, Wentzensen Ingrid M, Froehlich Catherine, Liebler Kaleigh, Galvin Parton Patricia, Weiss-Burns Jody, Sagnol Chloé, Delanne Julian, Racine Caroline, Thauvin-Robinet Christel, Safraou Hana, Tran Mau-Them Frédéric, Duffourd Yannis, Bruel Ange-Line, Faivre Laurence

Abstract excerpt

Neurodevelopmental disorders (NDD) are a wide and heterogenous group of conditions due to impaired brain development, orchestrated by the crosstalk between genome and environment. Dynamic chromatin regulation during cortical development is fundamental, and chromatin remodelers are critical determinants of this process. Recently, numerous chromatin remodeling genes have been implicated in NDDs. By altering genes'...

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PMID: 41606215
DOI: 10.1038/s41431-026-02017-w
PMCID: PMC13046748

Genes

RSF1

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