{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:59:21Z","timestamp":1764784761893,"version":"3.37.3"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T00:00:00Z","timestamp":1635465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T00:00:00Z","timestamp":1635465600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Axenfeld\u2013Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other congenital anomalies. FOXC1 and PITX2 genes play important roles in the development of ARS.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The present report describes a 7-year-old boy with iris dysplasia, displaced pupils, and congenital glaucoma in both eyes. The patient presented with a congenital atrial septal defect and sublingual cyst. The patient\u2019s family has no clinical manifestations. Next generation sequencing identified a pathogenic heterozygous missense variant in FOXC1 gene (NM_001453:c. 246C&gt;A, p. S82R) in the patient. Sanger sequencing confirmed this result, and this mutation was not detected in the other three family members.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>To the best of our knowledge, the results of our study reveal a novel mutation in the FOXC1 gene associated with ARS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01103-w","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T11:02:59Z","timestamp":1635505379000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel missense mutation of FOXC1 in an Axenfeld\u2013Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review"],"prefix":"10.1186","volume":"14","author":[{"given":"Kaiming","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manhua","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6207-6874","authenticated-orcid":false,"given":"Yinggui","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,10,29]]},"reference":[{"issue":"6","key":"1103_CR1","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1111\/cge.13148","volume":"93","author":"M Seifi","year":"2018","unstructured":"Seifi M, Walter MA. 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Informed written consent was obtained from the guardian (all of the patient\u2019s parents and grandmother). Approval to conduct this study was obtained from the Ethics Committee of Affiliated Hospital of Southwest Medical University (KY2019110). A copy of the written consent is available for review by the Editor of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from all of the patient\u2019s parents and grandmother for publication of identifying images and other personal or clinical details.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"255"}}