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Pathogenic variants in 12 genes have been shown to cause CSS. Most of these genes encode proteins that are a part of the mammalian switch\/sucrose non\u2010fermentable (mSWI\/SNF; BAF) complex. An association between genes that cause CSS and congenital diaphragmatic hernia (CDH) has been suggested based on case reports and the analysis of CSS and CDH cohorts. Here, we describe an unpublished individual with CSS and CDH, and we report additional clinical information on four published cases. Data from these individuals, and a review of the literature, provide evidence that deleterious variants in <jats:italic>ARID1B<\/jats:italic>, <jats:italic>ARID1A<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, <jats:italic>ARID2<\/jats:italic>, <jats:italic>DPF2<\/jats:italic>, and <jats:italic>SMARCC2<\/jats:italic>, which are associated with CSS types 1\u20138, respectively, are associated with the development of CDH. This suggests that additional genetic testing to identify a separate cause of CDH in an individual with CSS may be unwarranted, and that comprehensive genetic testing for individuals with non\u2010isolated CDH should include an evaluation of CSS\u2010related genes. These data also suggest that the mSWI\/SNF (BAF) complex may play an important role in diaphragm development.<\/jats:p>","DOI":"10.1002\/ajmg.a.62889","type":"journal-article","created":{"date-parts":[[2022,7,7]],"date-time":"2022-07-07T08:05:31Z","timestamp":1657181131000},"page":"2718-2723","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Evidence for an association between <scp>Coffin\u2010Siris<\/scp> syndrome and congenital diaphragmatic hernia"],"prefix":"10.1002","volume":"188","author":[{"given":"Yoel","family":"Gofin","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaonan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Gerard","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas United States"},{"name":"Joint BCM\u2010CUHK Center of Medical Genetics Prince of Wales Hospital  Hong Kong SAR"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"Wangler","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9194-0644","authenticated-orcid":false,"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters  Norfolk Virginia USA"},{"name":"Department of Pediatrics Eastern Virginia Medical School  Norfolk Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1460-5169","authenticated-orcid":false,"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas United States"},{"name":"Department of Molecular Physiology and Biophysics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.19612"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds507"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00252"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050435009"},{"issue":"1","key":"e_1_2_8_6_1","first-page":"45","article-title":"Diaphragmatic hernia in the Coffin\u2010Siris syndrome","volume":"9","author":"Delvaux V.","year":"1998","journal-title":"Genetic counseling"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.02.023"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.06.031"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy110"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61262"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31407"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40471"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306174"},{"key":"e_1_2_8_14_1","doi-asserted-by":"crossref","unstructured":"Meng L. 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