{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T02:16:29Z","timestamp":1768875389190,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,29]],"date-time":"2016-08-29T00:00:00Z","timestamp":1472428800000},"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":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Recent studies have identified mutations in the <jats:italic>ARID1B<\/jats:italic> gene responsible for neurodevelopmental delays, intellectual disability, growth delay, and dysmorphic features. <jats:italic>ARID1B<\/jats:italic> encodes a subunit of the BAF chromatin\u2010remodeling complex, and mutations in multiple components of the BAF complex have been implicated as causes of Coffin\u2013Siris syndrome, Nicolaides\u2013Baraitser syndrome, and non\u2010syndromic intellectual disability. The majority of documented pathogenic <jats:italic>ARID1B<\/jats:italic> mutations to date have arisen in a sporadic, de novo manner with no reports of inheritance of a pathogenic mutation from an affected parent. We describe here two patients (a 21\u2010year\u2010old female and her 21\u2010month\u2010old son) with a novel frameshift mutation in <jats:italic>ARID1B<\/jats:italic> inherited in an autosomal dominant fashion in the affected offspring. Both patients presented with neurodevelopmental delays, growth delay, and dysmorphic features including prominent nose with full nasal tip, long philtrum, and high\u2010arched palate. Exome sequencing analysis in the female patient demonstrated a heterozygous deletion of nucleotide 1259 of the <jats:italic>ARID1B<\/jats:italic> gene (c.1259delA) resulting in a frameshift and creation of a premature stop codon. Further family testing by targeted Sanger sequencing confirmed that this arose as a de novo mutation in the mother and was passed on to her affected son. The clinical features of both patients are felt to be consistent with an <jats:italic>ARID1B<\/jats:italic>\u2010related disorder. To our knowledge, this is the first report of a pathogenic mutation in <jats:italic>ARID1B<\/jats:italic> being passed from an affected parent to their offspring. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37945","type":"journal-article","created":{"date-parts":[[2016,8,29]],"date-time":"2016-08-29T06:43:30Z","timestamp":1472453010000},"page":"3313-3318","source":"Crossref","is-referenced-by-count":15,"title":["A novel familial autosomal dominant mutation in <i>ARID1B<\/i> causing neurodevelopmental delays, short stature, and dysmorphic features"],"prefix":"10.1002","volume":"170","author":[{"given":"Joshua A.","family":"Smith","sequence":"first","affiliation":[{"name":"Department of Neurology College of Medicine Medical University of South Carolina Charleston South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenton R.","family":"Holden","sequence":"additional","affiliation":[{"name":"Department of Neurology College of Medicine Medical University of South Carolina Charleston South Carolina"},{"name":"Department of Pediatrics College of Medicine Medical University of South Carolina Charleston South Carolina"},{"name":"Clinical Genetics Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Friez","sequence":"additional","affiliation":[{"name":"Clinical Genetics Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie R.","family":"Jones","sequence":"additional","affiliation":[{"name":"Clinical Genetics Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Lyons","sequence":"additional","affiliation":[{"name":"Clinical Genetics Greenwood Genetic Center Greenwood South 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