{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T20:38:13Z","timestamp":1760647093602,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,10,19]],"date-time":"2019-10-19T00:00:00Z","timestamp":1571443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004504","name":"Lietuvos Mokslo Taryba","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004504","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Coffin\u2013Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of <jats:italic>ARID1A<\/jats:italic>, <jats:italic>ARID1B<\/jats:italic>, <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, and <jats:italic>SOX11<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This case study presents the whole exome sequencing of a patient with characteristic clinical features of Coffin\u2013Siris syndrome. Analysis included Sanger sequencing of complementary DNA and bioinformatic analysis of the variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Analysis of cDNA Sanger sequencing data revealed that the donor splice site variant led to skipping of exon 19. Further, bioinformatic analysis predicted abnormal splicing in a translational frameshift of 11 amino acids and the creation of a premature termination codon. Results found a novel de novo splice site variant c.5025+2T&gt;C in the <jats:italic>ARID1B<\/jats:italic> and truncated 1 633 amino acid protein NP_065783.3:p. (Thr1633Valfs*11).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Truncated ARID1B resulted in loss of the BAF250 domain, which is part of SWI\/SNF\u2010like ATP\u2010dependent chromatin remodeling complex. The severe clinical manifestation presented by the proband was attributed to the disappearance of the BAF250 domain in the ARID1B protein. Our finding provides strong evidence that this pathogenic variant of exon 19 caused a frameshift mutation in the <jats:italic>ARID1B<\/jats:italic> at the terminal exon, resulting in the expression of a severe phenotype of CSS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1006","type":"journal-article","created":{"date-parts":[[2019,10,19]],"date-time":"2019-10-19T08:39:51Z","timestamp":1571474391000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["De novo splice site variant of <i>ARID1B<\/i> associated with pathogenesis of Coffin\u2013Siris syndrome"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7442-0732","authenticated-orcid":false,"given":"Laura","family":"Pranck\u0117nien\u0117","sequence":"first","affiliation":[{"name":"Department of Human and Medical Genetics Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3110-4059","authenticated-orcid":false,"given":"Evelina","family":"Siavrien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Gueneau","sequence":"additional","affiliation":[{"name":"Centre for Integrative Genomics University of Lausanne Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egl\u0117","family":"Preik\u0161aitien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violeta","family":"Mik\u0161tien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Reymond","sequence":"additional","affiliation":[{"name":"Centre for Integrative Genomics University of Lausanne Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaidutis","family":"Ku\u010dinskas","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Institute of Biomedical Sciences Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,19]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22529"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-018-0444-7"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00252"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176925.114"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.08.020"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-011-1182-x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.002"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01755.x"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.007"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-017-0013-0"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.00540-09"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.025"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00315"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.12.004"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0330-z"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.08.002"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1634\/stemcells.2007-0846"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1006","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1006","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T18:41:21Z","timestamp":1692643281000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,19]]},"references-count":21,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1002\/mgg3.1006"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1006","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2019,10,19]]},"assertion":[{"value":"2019-07-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1006"}}