Table 1.

Non-synonymous GATA4 Mutations Associated with Congenital Heart Disease

Study	Study Population	Nucleotide Change	Amino acid Change	Phenotype
Garg et al., 2003 [3]	Familial septal defects (2 families)	886G>A 1075delG	G296S E359RfsX44	ASD ± VSD, PS (1 family; 1 case of ECD) ASD (1 family)
Hiaryama-Yamada et al., 2005 [4]	Familial ASD (16 families)	1075delG 155C>T	E359RfsX44 S52F	ASD (1 family) ASD (1 family)
Okubo et al, 2004 [5]	Familial ASD (1 family)	1074delC	S358RfsX45	ASD ± PS (1 family)
Sarkozy et al, 2005 [6]	ASD (16 families; 13 sporadic)	886G>A	G296S	ASD ± PS (2 families)
Sarkozy et al, 2005 [7]	ECD (9 families; 26 sporadic)	None	None	N/A
Nemer et al, 2006 [8]	Largely sporadic CHD (94 probands: 26 TOF; 30 VSD; 18 PS; 15 PDA; 12 ASD, 8 TA, 6 TGA, 5 CoA)	648C>G	E216D	TOF (2 sporadic cases)
Zhang et al., 2006 [9]	Largely sporadic CHD (99 probands: 36 VSD, 4 ASD, 11 TOF, ECD 1, 47 other)	None	None	N/A
Schluterman et al., 2007 [10]	Largely sporadic CHD (157 probands: 14 ASD, 18 VSD, 7 ECD, 18 TOF, 45 LVOTO, 55 other)	None	None
This study	Largely sporadic CHD (237 probands; see Table 4)	487C>T 1037C>T 886G>T 1207C>A	P163S A346V 296C L403M	ECD (1 sporadic case) ECD (1 sporadic case) ASD + PS (1 family) Hypoplastic RV (1 sporadic case)

ASD, atrial septal defect; CoA, coarctation of the aorta; ECD, endocardial cushion defect; LVOTO, LV outflow tract obstruction; PS, pulmonary stenosis; PA, pulmonary atresia; PDA, patent ductus arteriosus; TA, tricuspid atresia; TGA, transposition of the great arteries; TOF, tetralogy of Fallot;.