Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

Karin Weiss, Carolyn Applegate, Tao Wang, Denise A.S. Batista

Research output: Contribution to journalArticle

Abstract

Haploinsufficiency of TAB2 was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2-10Mbs including TAB2 at 6q24-25 are almost always de novo and show variable cardiac and extra cardiac phenotype. We report on an inherited, 281kb deletion in a three generation family. This is the smallest reported deletion involving TAB2 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 TAB2 deletions. Findings from this family support a key role of TAB2 haploinsufficiency in congenital heart defects and expand the phenotypic spectrum of TAB2-microdeletion syndrome.

Original languageEnglish (US)
Pages (from-to)2702-2706
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
StatePublished - Nov 2015

Keywords

  • Cardiac outflow tract
  • Congenital heart defect
  • Deletion 6q
  • Myxomatous cardiac valves
  • TAB2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot'. Together they form a unique fingerprint.

  • Cite this