{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T21:15:13Z","timestamp":1769289313070,"version":"3.49.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:00:00Z","timestamp":1768348800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"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":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Coffin\u2010Siris syndrome (CSS) is a rare, clinically and genetically heterogeneous disorder characterized by coarse facial features, microcephaly, intellectual disability (ID), developmental delay (DD), and hypo\/aplastic digital nails and phalanges, typically of the 5th digit. CSS is an autosomal dominant disease resulting from mutations in genes encoding components of BRG1\/BRM\u2010associated factor (BAF) chromatin remodeling complexes. More than 300 CSS patients have been reported with variants in genes in the BAF pathway. Recently, patients carrying\n                      <jats:italic>SMARCC2<\/jats:italic>\n                      variants have been reported to be associated with CSS8. However, as the number of cases increases, many patients do not exhibit the representative clinical symptoms of CSS. Additional case reports and clinical studies will contribute to a redefinition of SMARCC2\u2010related disorders.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this research, three patients with SMARCC2\u2010related disorders from China were recruited. Genomic DNA was extracted from the peripheral blood leukocytes of these patients' parents and other family members, and then subjected to whole\u2010exome sequencing as well as Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In the present study, two de novo variants (c.1311\u20103C&gt;G, c.347G&gt;A (p.Arg116His)) and a novel de novo variant (c.346C&gt;T (p.Arg116Cys)) in the\n                      <jats:italic>SMARCC2<\/jats:italic>\n                      gene were detected in three patients with neurodevelopmental disorders by whole exome sequencing. The clinical presentation of our patients supports a redefinition of SMARCC2\u2010related diseases, which include mild to moderate DD, mild ID, facial dysmorphism, mild speech delay, hypotonia, feeding difficulties, brain abnormalities, attention deficit hyperactivity disorder (ADHD), and autistic behaviors. Furthermore, both the type of variant and its specific location may be contributing factors influencing the clinical outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our study expands the genetic spectrum of\n                      <jats:italic>SMARCC2<\/jats:italic>\n                      variants and detailed genotypic and phenotypic descriptions are important for the diagnosis of SMARCC2\u2010related disease and accurate clinical management.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70198","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T10:30:16Z","timestamp":1768386616000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Analysis of\n                    <i>SMARCC2<\/i>\n                    \u2010Related Diseases in Three Chinese Patients"],"prefix":"10.1002","volume":"14","author":[{"given":"Shan","family":"Ou","sequence":"first","affiliation":[{"name":"Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"},{"name":"Department of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shujie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"},{"name":"Department of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1849-0100","authenticated-orcid":false,"given":"Qi","family":"Yang","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"},{"name":"Department of Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2175-2289","authenticated-orcid":false,"given":"Qiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory 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