{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T13:43:36Z","timestamp":1787579016363,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    gene encodes a catalytic subunit of the BRG1\/BRM\u2010associated factor complex, which regulates gene expression through chromatin remodeling. Heterozygous missense variants in this gene have been linked to Coffin\u2013Siris syndrome, characterized by intellectual development disorder and various congenital anomalies (distinctive facial features, hypoplastic fifth digits, and malformations of the heart and central nervous system), but it is not typically associated with structural eye anomalies. Truncating variants in\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    have been associated with rhabdoid tumors predisposition syndrome, a group of rare and aggressive tumors occurring predominantly in infancy. Through pangenomic analyses (whole\u2010exome or whole\u2010genome sequencing), we identified loss\u2010of\u2010function variants in\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    in three unrelated individuals with microphthalmia and\/or coloboma. None of these individuals had a history of rhabdoid tumors; however, a regular oncological follow\u2010up was established following the\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    variant identification. Systemic features observed in these individuals consisted of developmental delay and brain anomalies. However, their clinical presentation does not align with classic features of Coffin\u2013Siris syndrome. Although eye development anomalies have occasionally been reported in individuals with a pathogenic variant in\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    , no clear association has been established to date. The description of these three new individuals provides further evidence supporting the role of\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    in eye development and its likely involvement in structural eye malformations.\n                  <\/jats:p>","DOI":"10.1111\/cge.70143","type":"journal-article","created":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T13:53:12Z","timestamp":1769089992000},"page":"1064-1069","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the Phenotypic Spectrum Associated With Loss\u2010of\u2010Function\n                    <i>SMARCA4<\/i>\n                    Variants to Eye Developmental Anomalies"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9729-7346","authenticated-orcid":false,"given":"Bertrand","family":"Chesneau","sequence":"first","affiliation":[{"name":"Laboratoire de R\u00e9f\u00e9rence (LBMR) des anomalies malformatives de l'\u0153il Institut F\u00e9d\u00e9ratif de Biologie (IFB), CHU de Toulouse  Toulouse France"},{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique, CARGO, CHU de Toulouse  Toulouse France"},{"name":"CNRS UMR5077, Centre de Biologie Int\u00e9grative Universit\u00e9 de Toulouse  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2959-0935","authenticated-orcid":false,"given":"Marjolaine","family":"Willems","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement CHU Montpellier  Montpellier France"},{"name":"Universit\u00e9 Montpellier, Inserm, Institute for Neurosciences of Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6119-0459","authenticated-orcid":false,"given":"Abdelhakim","family":"Bouazzaoui","sequence":"additional","affiliation":[{"name":"Laboratoire de R\u00e9f\u00e9rence (LBMR) des anomalies malformatives de l'\u0153il Institut F\u00e9d\u00e9ratif de Biologie (IFB), CHU de Toulouse  Toulouse France"},{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique, CARGO, CHU de Toulouse  Toulouse France"},{"name":"Centre Hospitalier Universitaire de Rennes, Service de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence Maladies Rares CLAD\u2010Ouest, ERN ITHACA, H\u00f4pital Sud  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9opoldine","family":"Lequeux","sequence":"additional","affiliation":[{"name":"Ophtalmologie Clinique Rive Gauche  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Plaisanci\u00e9","sequence":"additional","affiliation":[{"name":"Laboratoire de R\u00e9f\u00e9rence (LBMR) des anomalies malformatives de l'\u0153il Institut F\u00e9d\u00e9ratif de Biologie (IFB), CHU de Toulouse  Toulouse France"},{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique, CARGO, CHU de Toulouse  Toulouse France"},{"name":"CNRS UMR5077, Centre de Biologie Int\u00e9grative Universit\u00e9 de Toulouse  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1613-6570","authenticated-orcid":false,"given":"Salima","family":"El Chehadeh","sequence":"additional","affiliation":[{"name":"CHU Strasbourg, Service de G\u00e9n\u00e9tique  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[{"name":"CHU Strasbourg, Service de G\u00e9n\u00e9tique  Strasbourg France"},{"name":"ERN\u2010EYE Centre de R\u00e9f\u00e9rence Pour les Affections Rares en G\u00e9n\u00e9tique Ophtalmologique (CRMR CARGO) Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA), FSMR SENSGENE, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Universit\u00e9 de Strasbourg, UMRS_1112  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0234-8820","authenticated-orcid":false,"given":"Nicolas","family":"Chassaing","sequence":"additional","affiliation":[{"name":"Laboratoire de R\u00e9f\u00e9rence (LBMR) des anomalies malformatives de l'\u0153il Institut F\u00e9d\u00e9ratif de Biologie (IFB), CHU de Toulouse  Toulouse France"},{"name":"Centre de R\u00e9f\u00e9rence des Affections Rares en G\u00e9n\u00e9tique Ophtalmologique, CARGO, CHU de Toulouse  Toulouse France"},{"name":"GCS AURAGEN  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00252"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.013"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2922"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35933"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4926"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.65.3.25"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s43018\u2010021\u201000172\u20101"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24491"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10539"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1756\u20108935\u20103\u201021"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.10.2177"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61732"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70143","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70143","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70143","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:47:23Z","timestamp":1778640443000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70143"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,22]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1111\/cge.70143"],"URL":"https:\/\/doi.org\/10.1111\/cge.70143","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,22]]},"assertion":[{"value":"2025-10-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}