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CSS is a rare congenital syndrome with characteristic clinical findings. This thirty\u2010three\u2010year\u2010old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression. Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline missense mutation of <jats:italic>SMARCB1<\/jats:italic>, acquired loss of 22q including <jats:italic>SMARCB1<\/jats:italic> and <jats:italic>NF2<\/jats:italic> and mutation of the remaining <jats:italic>NF2<\/jats:italic> wild\u2010type allele\u2014thus completing the four\u2010hit, three\u2010event mechanism associated with schwannomatosis. Variations in five genes have been associated with the Coffin\u2013Siris phenotype: <jats:italic>ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1<\/jats:italic>. Of these genes, <jats:italic>SMARCB1<\/jats:italic> has a well\u2010established association with schwannomatosis and malignancy. This is the first report of a patient with a constitutional missense mutation of <jats:italic>SMARCB1<\/jats:italic> resulting in CSS and subsequent development of schwannomatosis. This finding demonstrates that a <jats:italic>SMARCB1<\/jats:italic> mutation may be the initial \u201chit\u201d (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch\/sucrose non\u2010fermenting (SWI\/SNF) mutations may be at increased risk for tumors. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37356","type":"journal-article","created":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T06:10:20Z","timestamp":1442211020000},"page":"3186-3191","source":"Crossref","is-referenced-by-count":42,"title":["Report of a patient with a constitutional missense mutation in <i>SMARCB1<\/i>, Coffin\u2013Siris phenotype, and schwannomatosis"],"prefix":"10.1002","volume":"167","author":[{"given":"Nathan","family":"Gossai","sequence":"first","affiliation":[{"name":"Division of Pediatric Hematology and Oncology University of Minnesota Masonic Children's Hospital Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaclyn A.","family":"Biegel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludwine","family":"Messiaen","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama, Birmingham Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan A.","family":"Berry","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism University of Minnesota Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher L.","family":"Moertel","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology University of Minnesota Masonic Children's Hospital Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canep.2012.12.001"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31410"},{"key":"e_1_2_5_4_1","first-page":"74","article-title":"Germ\u2010line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors","volume":"59","author":"Biegel JA","year":"1999","journal-title":"Cancer Res"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000997"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082420"},{"key":"e_1_2_5_7_1","first-page":"433","article-title":"Mental Retardation with absent fifth fingernail and terminal phalanx","volume":"19","author":"Coffin GS","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22831"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010215)99:1<1::AID-AJMG1127>3.0.CO;2-A"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2014.07.018"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/513207"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.26.7.2661-2674.2006"},{"key":"e_1_2_5_13_1","first-page":"262","article-title":"Coffin\u2010Siris Syndrome International Collaborators. 2014. 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