{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:46:36Z","timestamp":1785797196009,"version":"3.56.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Craniosynostosis is a common congenital disorder characterized by premature fusion of one or more cranial sutures, categorized into non-syndromic (NSCS) and syndromic craniosynostosis (SCS). SCS accounts for \u223c30% of cases, often accompanied by severe clinical complications, with 20%\u201325% of patients lacking a clear molecular etiology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We enrolled 18 Chinese SCS patients and analyzed their clinical and genetic data via whole-exome sequencing (WES), copy number variation (CNV) analysis, and Sanger sequencing validation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 15 single nucleotide variants, 2 insertions\/deletions, and one microdeletion at 11q23.3q25. Thirteen probands harbored pathogenic\/likely pathogenic variants in known craniosynostosis-related genes:\n                      <jats:italic>FGFR2<\/jats:italic>\n                      (n = 4),\n                      <jats:italic>FGFR3<\/jats:italic>\n                      (n = 2),\n                      <jats:italic>TWIST1<\/jats:italic>\n                      (n = 2), and one each in\n                      <jats:italic>ERF, EFNB1, SON, HUWE1<\/jats:italic>\n                      , and\n                      <jats:italic>KRAS<\/jats:italic>\n                      . Three probands carried variants in\n                      <jats:italic>PTEN, SRCAP, PQBP1<\/jats:italic>\n                      , none of which have previously been associated with craniosynostosis. Notably, a\n                      <jats:italic>de novo<\/jats:italic>\n                      nonsense variant (c.562G&amp;gt;T, p. Glu188Ter) was identified in NOG, a promising candidate gene for craniosynostosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      Our findings broaden the genotypic spectrum of craniosynostosis and further highlight the genetic heterogeneity underlying this disorder. The discovery of variants in\n                      <jats:italic>PTEN, SRCAP, PQBP1<\/jats:italic>\n                      , and\n                      <jats:italic>NOG<\/jats:italic>\n                      identifies novel candidate genes and uncovers potential disease mechanisms.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1876428","type":"journal-article","created":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:10:20Z","timestamp":1785795020000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes"],"prefix":"10.3389","volume":"17","author":[{"given":"Yufeng","family":"Huang","sequence":"first","affiliation":[{"name":"Genetics and Precision Medical Center, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingyue","family":"Huang","sequence":"additional","affiliation":[{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]},{"name":"Department of Neurosurgery, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilin","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Emergency, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Tan","sequence":"additional","affiliation":[{"name":"Genetics and Precision Medical Center, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peiwei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Genetics and Precision Medical Center, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukun","family":"Luo","sequence":"additional","affiliation":[{"name":"Genetics and Precision Medical Center, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Yu","sequence":"additional","affiliation":[{"name":"Genetics and Precision Medical Center, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanqiu","family":"Hu","sequence":"additional","affiliation":[{"name":"Genetics and Precision Medical Center, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanzhi","family":"He","sequence":"additional","affiliation":[{"name":"Clinical Medical Research Center for Birth Defect Prevention and Treatment in Wuhan","place":["Wuhan, China"]},{"name":"Department of Neurosurgery, Wuhan Children\u2019s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, 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