{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T15:34:22Z","timestamp":1792424062045,"version":"4.5.0"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"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. Neurosci."],"abstract":"<jats:p>\n                    Bainbridge-Ropers syndrome (BRPS, OMIM #615485) is a rare, heterogeneous autosomal dominant genetic disease that is mainly characterized by intellectual disability (ID) of varying degrees, developmental delay (DD), language impairments, failure to thrive, behavioral issues, hypotonia, feeding difficulties, and distinctive craniofacial features. It is caused by heterozygous pathogenic variants in the additional sex combs-like 3 (\n                    <jats:italic>ASXL3<\/jats:italic>\n                    , OMIM #615115) gene. In this study, four Chinese patients were diagnosed with BRPS caused by\n                    <jats:italic>ASXL3<\/jats:italic>\n                    variants through whole exome sequencing. We detected two novel and two previously reported variants of the\n                    <jats:italic>ASXL3<\/jats:italic>\n                    gene (NM_030632.3) in these 4 unrelated Chinese patients: two novel variants, namely, c.1276del (\n                    <jats:italic>p<\/jats:italic>\n                    .Val426\n                    <jats:sup>*<\/jats:sup>\n                    ) and c.3750del (\n                    <jats:italic>p<\/jats:italic>\n                    .Glu1251Asnfs\n                    <jats:sup>*<\/jats:sup>\n                    5), and two recurrent variants, namely, c.4330C&amp;gt;T (\n                    <jats:italic>p<\/jats:italic>\n                    .Arg1444\n                    <jats:sup>*<\/jats:sup>\n                    ) and c.4336_4337delAG (\n                    <jats:italic>p<\/jats:italic>\n                    .Arg1446fs\n                    <jats:sup>*<\/jats:sup>\n                    2). All four patients had a clinical profile similar to that associated with BRPS. Compared with previously reported cases of BRPS, these patients exhibited novel complications, including long eyelashes, congenital laryngeal cartilage hypoplasia and dextrocardia. These findings broaden our understanding of the mutational and clinical spectrum of BRPS, emphasizing the importance of long-term monitoring and vigilance regarding potential complications, such as cardiac abnormalities, in BRPS patients.\n                  <\/jats:p>","DOI":"10.3389\/fnins.2025.1739877","type":"journal-article","created":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T06:53:15Z","timestamp":1769064795000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients"],"prefix":"10.3389","volume":"19","author":[{"given":"Qi","family":"Yang","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 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China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"He","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","place":["Nanning, China"]},{"name":"Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region","place":["Nanning, China"]},{"name":"Guangxi Clinical Research Center for Birth Defects, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region","place":["Nanning, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingsi","family":"Luo","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","place":["Nanning, China"]},{"name":"Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region","place":["Nanning, China"]},{"name":"Guangxi Clinical Research Center for Birth Defects, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region","place":["Nanning, China"]},{"name":"Guangxi Clinical Research Center for Pediatric Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region","place":["Nanning, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1002\/bdr2.1191","article-title":"Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 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A"}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2025.1739877\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T06:53:22Z","timestamp":1769064802000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2025.1739877\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,22]]},"references-count":28,"alternative-id":["10.3389\/fnins.2025.1739877"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2025.1739877","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,22]]},"article-number":"1739877"}}