Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. (2nd July 2015)

• Record Type: Journal Article
• Authors: Weiss, Karin; Applegate, Carolyn; Wang, Tao; Batista, Denise A. S.
• Is Part Of: American journal of medical genetics. Volume 167:Number 11(2015:Nov.)
• Page Start: 2702
• Page End: 2706
• Publication Date: 2015-07-02
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37210
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37210-sec-0001" sec-type="section"> <p>Haploinsufficiency of <italic>TAB2</italic> was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2–10 Mbs including <italic>TAB2</italic> at 6q24–25 are almost always <italic>de novo</italic> and show variable cardiac and extra cardiac phenotype. We report on an inherited, 281 kb deletion in a three generation family. This is the smallest reported deletion involving <italic>TAB2</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 <italic>TAB2</italic> deletions. Findings from this family support a key role of <italic>TAB2</italic> haploinsufficiency in congenital heart defects and expand the phenotypic spectrum of <italic>TAB2</italic>‐microdeletion syndrome. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>