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CSS represents a small group of intellectual disability, and could be caused by at least twelve genes. The genetic background is quite heterogenous, making it difficult for clinicians and genetic consultors to pinpoint the exact disease types.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Array-Comparative Genomic Hybridization (array-CGH) and whole exome sequencing (WES) were applied for three trios affected with intellectual disability and clinical features similar with those of Coffin\u2013Siris syndrome. Sanger sequencing was used to verify the detected single-nucleotide variants (SNVs).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>All of the three cases were female with normal karyotypes of 46, XX, born of healthy, non-consanguineous parents. A 6q25 microdeletion (arr[hg19]6q25.3(155,966,487\u2013158,803,979)\u2009\u00d7\u20091) (2.84\u00a0Mb) (case 1) and two loss-of-function (LoF) mutations of <jats:italic>ARID1B<\/jats:italic> [c.2332\u2009+\u20091G\u2009&gt;\u2009A in case 2 and c.4741C\u2009&gt;\u2009T (p.Q1581X) in case 3] were identified. All of the three pathogenic abnormalities were de novo, not inherited from their parents. After comparison of publicly available microdeletions containing <jats:italic>ARID1B<\/jats:italic>, four types of microdeletions leading to insufficient production of <jats:italic>ARID1B<\/jats:italic> were identified, namely deletions covering the whole region of <jats:italic>ARID1B<\/jats:italic>, deletions covering the promoter region, deletions covering the termination region or deletions covering enhancer regions.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Here we identified de novo ARID1B mutations in three Chinese trios. Four types of microdeletions covering ARID1B were identified. This study broadens current knowledge of ARID1B mutations for clinicians and genetic consultors.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01119-2","type":"journal-article","created":{"date-parts":[[2021,11,14]],"date-time":"2021-11-14T21:02:19Z","timestamp":1636923739000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin\u2013Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing"],"prefix":"10.1186","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8556-8687","authenticated-orcid":false,"given":"Guanting","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiongling","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liya","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,14]]},"reference":[{"issue":"3","key":"1119_CR1","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1002\/ajmg.c.31411","volume":"166C","author":"SS Vergano","year":"2014","unstructured":"Vergano SS, Deardorff MA. 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This study was approved by the Ethical Committee of the Shenzhen Baoan Women's and Children\u2019s Hospital. We obtained written informed consent from all individual members included in the study. As for the minors, written informed consent was obtained from the parents or legal guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patients for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal. As for the minors, written informed consent was obtained from the parents or legal guardians.","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":"270"}}