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Germline mutations in the components of the SWI\/SNF complex are related to human developmental disorders, including the Coffin\u2013Siris syndrome (CSS), Nicolaides\u2013Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. These disorders are collectively referred to as SWI\/SNF complex-related intellectual disability disorders (SSRIDDs).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Whole-exome sequencing was performed in 564 Korean patients with neurodevelopmental disorders. Twelve patients with SSRIDDs (2.1%) were identified and their medical records were retrospectively analyzed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p><jats:italic>ARID1B<\/jats:italic>, found in eight patients, was the most frequently altered gene. Four patients harbored pathogenic variants in <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>ARID2<\/jats:italic>, and <jats:italic>SMARCA2.<\/jats:italic> Ten patients were diagnosed with CSS, and one patient without a typical phenotype was diagnosed with <jats:italic>ARID1B<\/jats:italic>-related nonsyndromic intellectual disability. Another patient harboring the <jats:italic>SMARCA2<\/jats:italic> pathogenic variant was diagnosed with NCBRS. All pathogenic variants in <jats:italic>ARID1B<\/jats:italic> were truncating, whereas variants in <jats:italic>SMARCA2<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, and <jats:italic>SMARCA4<\/jats:italic> were nontruncating (missense). Frequently observed phenotypes were thick eyebrows (10\/12), hypertrichosis (8\/12), coarse face (8\/12), thick lips (8\/12), and long eyelashes (8\/12). Developmental delay was observed in all patients, and profound speech delay was also characteristic. Agenesis or hypoplasia of the corpus callosum was observed in half of the patients (6\/12).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>SSRIDDs have a broad disease spectrum, including NCBRS, CSS, and <jats:italic>ARID1B<\/jats:italic>-related nonsyndromic intellectual disability. Thus, SSRIDDs should be considered as a small but important cause of human developmental disorders.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01104-9","type":"journal-article","created":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T16:03:03Z","timestamp":1635350583000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Phenotypic and molecular spectra of patients with switch\/sucrose nonfermenting complex-related intellectual disability disorders in Korea"],"prefix":"10.1186","volume":"14","author":[{"given":"Yena","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunha","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Go Hun","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changwon","family":"Keum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoo-Mi","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyo-Sang","family":"Do","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeongmin","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In Hee","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,10,27]]},"reference":[{"issue":"4","key":"1104_CR1","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1038\/nsmb1071","volume":"13","author":"M Zofall","year":"2006","unstructured":"Zofall M, Persinger J, Kassabov SR, Bartholomew B. 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Blood or buccal smear samples were obtained with the informed consent of the patients\u2019 parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of the information regarding clinical details and pedigree was obtained from the participants or their 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":"254"}}