Congenital heart defects (CHDs) occur in about 0.5-1% of all newborns and are the most common birth defects. Double outlet right ventricle (DORV) accounts for approximately 1-3% of all CHDs. Similar to Tetralogy of Fallot (TOF), DORV is a subtype of contruncal heart defects (CTDs) and is anatomically characterized by a malposition of the great arteries. We described a boy with chromosomal translocation: 46, XY t (8; 18) (q22; q21) that may disrupts the ZFPM2/FOG2 locus. The coding sequences of ZFPM2/FOG2 were determined in 38 patients with sporadic DORV, 95 patients with TOF, and 12 patients with transposition of the great arteries. Five DNA sequence variants affecting variably conserved residues of ZFPM2/FOG2 were identified in patients with TOF type or ventricular septal defect type of DORV. Three novel mutations (p.V339I, p.K737E, and p.A611T) were reported for the first time. The other two mutations (p.M703L and p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in patients with CHD. Our finding suggests that variants of the ZFPM2/FOG2 gene might be a common cause of DORV.
© 2011 John Wiley & Sons A/S.