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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\u2019 epigenetic state, mutated chromatin remodelers disrupt the spatiotemporal regulation of gene expression during development, potentially leading to severe consequences. The Remodeling and Spacing Factor 1 (\n                    <jats:italic>RSF1<\/jats:italic>\n                    ) gene encodes a ubiquitous nuclear protein involved in chromatin remodeling, crucial for processes such as DNA transcription, replication, and repair. In this study, we identified by gene matching (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20097) and literature search (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20094) eleven unrelated individuals harboring de novo or inherited from a symptomatic parent heterozygous variants in\n                    <jats:italic>RSF1<\/jats:italic>\n                    . All individuals had an NDD, whether intellectual disability, autism spectrum disorder or developmental delay. From the seven individuals with detailed clinical information, unspecific and inconsistent associated features were described, including cranio-facial morphological features, musculoskeletal, digestive, vision, tone, epilepsy and brain MRI anomalies. Our data support the hypothesis that\n                    <jats:italic>RSF1<\/jats:italic>\n                    is important for brain development and a novel candidate gene for syndromic NDDs.\n                  <\/jats:p>","DOI":"10.1038\/s41431-026-02017-w","type":"journal-article","created":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T16:37:04Z","timestamp":1769618224000},"page":"554-564","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder"],"prefix":"10.1038","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2130-6900","authenticated-orcid":false,"given":"C\u00e9line","family":"Jost","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Busa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Wegner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1329-4100","authenticated-orcid":false,"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0408-7468","authenticated-orcid":false,"given":"Am\u00e9lie","family":"Piton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2279-4273","authenticated-orcid":false,"given":"Caroline","family":"Schluth-Bolard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Perrine","family":"Charles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharina","family":"Mayerhanser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5183-780X","authenticated-orcid":false,"given":"Theresa","family":"Brunet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6596-128X","authenticated-orcid":false,"given":"Ulrich","family":"Schatz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer E.","family":"Neil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0156-2238","authenticated-orcid":false,"given":"Christopher A.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Sisco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"J. 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Other authors declare no competing financial interest. URL. AURAGEN platform\n                      \n                      . GeneMatcher\n                      \n                      . Denovo-db\n                      \n                      . Decipher","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Our data were collected retrospectively and anonymously. According to French law, this study qualifies as a research project not involving human subjects (RNIPH). It was based on the re-use of available data and conducted in accordance with the principles of CNIL MR-004 guidelines, therefore not requiring any specific ethics committee decision. Our establishment\u2019s clinical research department was nevertheless consulted. The study was carried out in accordance with the French Data Protection Act 78-17 of January 6, 1978, as amended, and the General Regulation on the Protection of Personal Data, adopted at the European level and into force on May 25, 2018. Written informed consent for publication of clinical data and images was obtained from the legal guardians of all participants. The study was conducted in accordance with the Declaration of Helsinki and applicable data protection regulations.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical"}}]}}