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Reported cases have genomic deletions of 2\u201310\u2009Mbs including <jats:italic>TAB2<\/jats:italic> at 6q24\u201325 are almost always <jats:italic>de novo<\/jats:italic> and show variable cardiac and extra cardiac phenotype. We report on an inherited, 281\u2009kb deletion in a three generation family. This is the smallest reported deletion involving <jats:italic>TAB2<\/jats:italic> that segregates with congenital heart defects. Three affected individuals in this family present with myxomatous cardiac valves in addition to structural heart defects commonly associated with <jats:italic>TAB2<\/jats:italic> deletions. Findings from this family support a key role of <jats:italic>TAB2<\/jats:italic> haploinsufficiency in congenital heart defects and expand the phenotypic spectrum of <jats:italic>TAB2<\/jats:italic>\u2010microdeletion syndrome. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37210","type":"journal-article","created":{"date-parts":[[2015,7,3]],"date-time":"2015-07-03T17:48:50Z","timestamp":1435945730000},"page":"2702-2706","source":"Crossref","is-referenced-by-count":32,"title":["Familial <i>TAB2<\/i> microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot"],"prefix":"10.1002","volume":"167","author":[{"given":"Karin","family":"Weiss","sequence":"first","affiliation":[{"name":"Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Applegate","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Wang","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise A. 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