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The phenotypic spectrums associated with variants in this gene vary widely ranging for mild to severe non\u2010specific ID to Coffin\u2013Siris syndrome. In this study, we evaluated three children from a consanguineous Emirati family affected with ID and dysmorphic features. Genomic DNA from all affected siblings was analyzed using CGH array and whole\u2010exome sequencing (WES). Based on a recessive mode of inheritance, homozygous or compound heterozygous variants shared among all three affected children could not be identified. However, further analysis revealed a heterozygous variant (c.4318C&gt;T; p.Q1440*) in the three affected children in an autosomal dominant ID causing gene, <jats:italic>ARID1B<\/jats:italic>. This variant was absent in peripheral blood samples obtained from both parents and unaffected siblings. Therefore, we propose that the most likely explanation for this situation is that one of the parents is a gonadal mosaic for the variant. To the best of our knowledge, this is the first report of a gonadal mosaicism inheritance of an <jats:italic>ARID1B<\/jats:italic> variant leading to familial ID recurrence. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37405","type":"journal-article","created":{"date-parts":[[2015,9,23]],"date-time":"2015-09-23T12:49:24Z","timestamp":1443012564000},"page":"156-161","source":"Crossref","is-referenced-by-count":12,"title":["Gonadal mosaicism in <i>ARID1B<\/i> gene causes intellectual disability and dysmorphic features in three siblings"],"prefix":"10.1002","volume":"170","author":[{"given":"Salma","family":"Ben\u2010Salem","sequence":"first","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences United Arab Emirates University Al\u2010Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nara","family":"Sobreira","sequence":"additional","affiliation":[{"name":"Institute of Genetic 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