{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T13:44:22Z","timestamp":1785419062014,"version":"3.56.0"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"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. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Coffin-Siris syndrome (CSS) is a multiple congenital anomaly syndrome characterized by coarse facial features, sparse scalp hair, hypertrichosis, and hypo\/aplastic digital nails and phalanges. Mutations in the BAF (SWI\/SNF)-complex subunits (SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, and ARID1A) have been shown to cause CSS. People diagnosed with BAF pathway related diseases are increasing, and <jats:italic>ARID2<\/jats:italic> (NM_152641.4) is the least common of these genes. Mutations in the ARID2 gene is the cause for Coffin-Siris syndrome 6 (CSS6). By now only 16 individuals with CSS have been reported to have pathogenic variants in <jats:italic>ARID2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>In this article, we introduced two individuals with clinical features consistent with CSS6 (Coffin-Siris syndrome 6). This article increases the number of reported cases, provides better phenotypic information for this rare syndrome, and allows everyone to better understand the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our observations indicate that <jats:italic>ARID2<\/jats:italic> mutations could have variable phenotypes, even in patients from the same family.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.911954","type":"journal-article","created":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T07:11:26Z","timestamp":1655968286000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["ARID2, a Rare Cause of Coffin\u2013Siris Syndrome: A Clinical Description of Two Cases"],"prefix":"10.3389","volume":"10","author":[{"given":"Xiaoyan","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linqi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2250","DOI":"10.1002\/ajmg.a.62187","article-title":"Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.","volume":"185","author":"Cheng","year":"2021","journal-title":"Am J Med Genet A."},{"key":"B2","doi-asserted-by":"publisher","first-page":"3104","DOI":"10.1002\/ajmg.a.38407","article-title":"Confirmation of an ARID2 defect in SWI\/SNF-related intellectual disability.","volume":"173","author":"Van","year":"2017","journal-title":"Am J Med Genet A."},{"key":"B3","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1007\/s10048-015-0454-0","article-title":"Mutations in ARID2 are associated with intellectual disabilities.","volume":"16","author":"Shang","year":"2015","journal-title":"Neurogenetics."},{"key":"B4","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1002\/ajmg.a.61075","article-title":"Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI\/SNF-related intellectual disability.","volume":"179","author":"Khazanchi","year":"2019","journal-title":"Am J Med Genet A."},{"key":"B5","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.ejmg.2018.04.014","article-title":"Extending the clinical and genetic spectrum of ARID2 related intellectual disability. 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