{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:39Z","timestamp":1747146159931,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,6]],"date-time":"2021-11-06T00:00:00Z","timestamp":1636156800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study aimed to identify the disease\u2010causing gene of three Chinese families with glaucoma. Whole exome sequencing was performed on the probands and detected three different variants (c.405C&gt;A (p.Cys135Ter), c.851G&gt;T (p.Ser284Ile), and c.392C&gt;T (p.Ser131Leu)) in <jats:italic>FOXC1<\/jats:italic> as a causative gene of glaucoma, and Sanger sequencing was performed for verification and cosegregation analysis. Three in silico tools all predicted these two missense variants to be probably disease\u2010causing. Western blot analysis, immunofluorescence, and dual\u2010luciferase assay were further used to evaluate the effect of FOXC1 missense variants, and demonstrated that the two variants resulted in decreased transactivation activity of FOXC1 although the variants had no effect on the protein amount and the nucleus subcellar localization of FOXC1 compared with the wild type, which implies that both of two variants may be probably pathogenic. In this study, we reported two novel <jats:italic>FOXC1<\/jats:italic> variants as well as a reported variant and the phenotypes associated to these variants, which expands the spectrum and relevant phenotypes of <jats:italic>FOXC1<\/jats:italic> variants. Additionally, the functional analysis of FOXC1 variants provides further insight into the possible pathogenesis of anterior segment anomaly related to <jats:italic>FOXC1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62551","type":"journal-article","created":{"date-parts":[[2021,11,6]],"date-time":"2021-11-06T08:28:25Z","timestamp":1636187305000},"page":"540-547","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification and functional study of <scp><i>FOXC1<\/i><\/scp> variants in Chinese families with glaucoma"],"prefix":"10.1002","volume":"188","author":[{"given":"Xinyao","family":"Wang","sequence":"first","affiliation":[{"name":"Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine Tongji University  Shanghai China"},{"name":"Department of Medical Genetics School of Medicine, Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangyuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine Tongji University  Shanghai China"},{"name":"Department of Medical Genetics School of Medicine, Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuying","family":"Li","sequence":"additional","affiliation":[{"name":"Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine Tongji University  Shanghai China"},{"name":"Department of Medical Genetics School of Medicine, Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Yang","sequence":"additional","affiliation":[{"name":"Clinical and Translational Research Center of Shanghai First Maternity and Infant Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuejiao","family":"Sun","sequence":"additional","affiliation":[{"name":"Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine Tongji University  Shanghai China"},{"name":"Department of Medical Genetics School of Medicine, Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Yang","sequence":"additional","affiliation":[{"name":"Clinical and Translational Research Center of Shanghai First Maternity and Infant Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zilin","family":"Zhong","sequence":"additional","affiliation":[{"name":"Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine Tongji University  Shanghai China"},{"name":"Department of Medical Genetics School of Medicine, Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6611-6079","authenticated-orcid":false,"given":"Jianjun","family":"Chen","sequence":"additional","affiliation":[{"name":"Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine Tongji University  Shanghai China"},{"name":"Department of Medical Genetics School of Medicine, Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,11,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110266200"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm326"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.2.245"},{"key":"e_1_2_9_5_1","first-page":"265","volume-title":"Handbook of experimental pharmacology","author":"Chepelinsky A. 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