{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T13:36:01Z","timestamp":1782999361274,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,6,5]],"date-time":"2016-06-05T00:00:00Z","timestamp":1465084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Coffin\u2013Siris syndrome (CSS, MIM 135900), is a well\u2010described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo\/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI\/SNF)\u2010complex subunits (<jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCA2<\/jats:italic>, <jats:italic>ARID1B<\/jats:italic>, and <jats:italic>ARID1A<\/jats:italic>) have been shown to cause not only CSS, but also related disorders including Nicolaides\u2013Baraitser (MIM 601358) syndrome and <jats:italic>ARID1B<\/jats:italic>\u2010intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in <jats:italic>SMARCE1<\/jats:italic>. We report here three additional individuals with clinical features consistent with CSS and alterations in <jats:italic>SMARCE1<\/jats:italic>, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails\/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, <jats:italic>SMARCE1<\/jats:italic> is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37722","type":"journal-article","created":{"date-parts":[[2016,6,6]],"date-time":"2016-06-06T03:58:49Z","timestamp":1465185529000},"page":"1967-1973","source":"Crossref","is-referenced-by-count":24,"title":["<i>SMARCE1<\/i>, a rare cause of Coffin\u2013Siris Syndrome: Clinical description of three additional cases"],"prefix":"10.1002","volume":"170","author":[{"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Kaylor","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Science Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Escobar","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurodevelopmental Pediatrics St. Vincent's Peyton Manning Children's Hospital Indianapolis Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afifa","family":"Irani","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurodevelopmental Pediatrics St. Vincent's Peyton Manning Children's Hospital Indianapolis Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37217"},{"key":"e_1_2_6_3_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin GS","year":"1970","journal-title":"Am J Dis 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