{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T16:03:50Z","timestamp":1777565030333,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,11]],"date-time":"2016-08-11T00:00:00Z","timestamp":1470873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16K09974"],"award-info":[{"award-number":["16K09974"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in the BAF complex (mammalian SWI\/SNF complex) are responsible for Coffin\u2010Siris syndrome, which is characterized by developmental delay, distinctive facial features, hirsutism, and hypoplasia\/aplasia of the fifth finger\/fingernails. Hirschsprung disease is characterized by defective stem cells in the enteric neural system, and the involvement of multiple signaling cascades has been implicated. So far, the roles of the BAF complex in the genesis of Hirschsprung disease have remained unknown. Here, we document a patient with coarse facial features, postnatal growth failure, developmental delay, epilepsy, and hypoplasia of the corpus callosum and cerebellum but without a hypoplastic fifth finger\/fingernail. In addition, he had Hirschsprung disease. Exome sequencing with a gene set representing a total of 4,813 genes with known relationships to human diseases revealed a heterozygous frameshift mutation in <jats:italic>ARID1B<\/jats:italic> (c.5789delC p.Pro1930Leufs*44). The presence of a congenital cataract and Hirschsprung disease in the presently reported patient further expands the phenotypic spectrum of patients with <jats:italic>ARID1B<\/jats:italic> mutations and may suggest the potential role of the BAF complex in the pathogenesis of the enteric neural system. The present observation is in agreement with a recent study of <jats:italic>Drosophila<\/jats:italic> neuroblasts showing that the dysregulated BAF complex leads to an abnormal lineage progression of neural stem cell lineages and that Hirschsprung disease is caused by abnormal stem cell lineages in the peripheral neural tissues. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37861","type":"journal-article","created":{"date-parts":[[2016,8,11]],"date-time":"2016-08-11T10:04:38Z","timestamp":1470909878000},"page":"3249-3252","source":"Crossref","is-referenced-by-count":20,"title":["Hirschsprung disease as a yet undescribed phenotype in a patient with <i>ARID1B<\/i> mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Toshiki","family":"Takenouchi","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"},{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Yoshihashi","sequence":"additional","affiliation":[{"name":"Department of Genetics Tokyo Metropolitan Children's Medical Center Fuchu Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri","family":"Sakaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"},{"name":"Department of Neurology Tokyo Metropolitan Children's Medical Center Fuchu Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masataka","family":"Honda","sequence":"additional","affiliation":[{"name":"Department of Nephrology Tokyo Metropolitan Children's Medical Center Fuchu Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahoko","family":"Miyama","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Children's Medical Center Fuchu Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,11]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Diagnostic dysmorphology","author":"Aase 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