Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4.

ABSTRACT: Conotruncal heart defect (CTD) is a complex form of congenital heart disease and usually has a poor prognosis. ZFPM2/FOG2 encodes a transcription cofactor that interacts with GATA4 to regulate cardiac development. This regulation has been established in knockout mouse models that display a range of heart malformations, especially CTD. Although previous studies have identified several missense variants in ZFPM2/FOG2 that may cause CTD, it remains unclear whether they are involved in CTD pathogenesis because the study populations were limited and the functional status was unknown. In this report, we screened a larger CTD population, which comprised 145 tetralogy of Fallot (TOF), 37 double-outlet ventricle outflow (DORV), and 18 transposition of the great artery (TGA), to investigate exon mut

SUBMITTER: Zhang W 

PROVIDER: S-EPMC4099368 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature