Table II.
GATA4 Alterations in Sporadic Heart Defects
| Reference | Nucleotide Change¥ | AA Change | Phenotype | Frequency | Inheritance pattern | Control Chromosomes | Functional studies |
|---|---|---|---|---|---|---|---|
| Poirier et al., 2003 | NR | Ala411Val§ | Cardiac hypertrophy | Unclear (95 individuals screened) | NR | NR | NR |
| Poirier et al., 2003 | NR | Ser377Gly | Cardiac hypertrophy | Unclear (95 individuals screened) | NR | NR | NR |
| Reamon-Buettner et al., 2005 | 874T>C | Cys292Arg | VSD, ASD, AVSD | NR | 0/40 | NR | |
| 687G>T | Arg229Ser | VSD, ASD, AVSD | NR | 0/130 | NR | ||
| 631T>C | Phe211Leu | VSD, AVSD | NR | 0/130 | NR | ||
| 731A>G | Tyr244Cys | VSD, AVSD | NR | 0/130 | NR | ||
| 743A>G | Asn248Ser | ASD, AVSD | NR | 0/2 | NR | ||
| 782T>C | Leu261Pro | VSD, ASD | NR | NR | NR | ||
| 677delC | Pro226fs | AVSD | NR | 0/2 | NR | ||
| 700G>A | Gly234Ser | AVSD | NR | 0/4 | NR | ||
| 755G>C | Arg252Pro | AVSD | NR | 0/4 | NR | ||
| 796C>T | Arg266Ter | AVSD | NR | 0/2 | NR | ||
| 818A>G | Asn273Ser | AVSD | NR | 0/2 | NR | ||
| 830C>T | Thr277Ile | AVSD | NR | NR | NR | ||
| 848G>A | Arg283His | AVSD, overriding aorta, ASD | NR | 0/2 | NR | ||
| 855T>G | Asn285Lys | AVSD | NR | NR | NR | ||
| 905A>G | His302Arg | AVSD | NR | NR | NR | ||
| 622T>C | Phe208Leu | VSD | NR | 0/2 | NR | ||
| 640G>A | Gly214Ser | VSD | NR | NR | NR | ||
| 668T>C | Met223Thr | VSD | NR | 0/2 | NR | ||
| 715A>G | Asn239Asp | VSD | NR | NR | NR | ||
| 716A>G | Asn239Ser | VSD | NR | NR | NR | ||
| 779G>A | Arg260Gln | VSD | NR | NR | NR | ||
| 779G>A | Ile255Thr | ASD | NR | NR | NR | ||
| 881C>T | Ala294Val | ASD | NR | NR | NR | ||
| Nemer et al., 2006 | 648C>G | Glu216Asp | TOF | 2/26 Patients with TOF | De novo in both patients | 0/446 | Reduced transcriptional activity in reporter assay |
| Reamon-Buettner et al., 2007 | 1288C>G | Leu430Val | AVSD | NR | NR | NR | |
| 1081A>G | Met361Val | VSD | NR | NR | NR | ||
| 1130G>A | Ser377Asn | VSD | NR | NR | NR | ||
| 1324G>A | Ala442Thr | VSD | NR | NR | NR | ||
| 1295T>C | Leu432Ser | ASD | NR | NR | NR | ||
| 1288C>G | Leu430Val | ASD | NR | NR | NR | ||
| Rajagopal et al., 2007 | 487C>T | Pro163Ser | ECD | 1/43 Patients with ECD | Paternal, unaffected father | 0/600 | NR |
| 1037C>T | Ala346Val | ECD | 1/43 Patients with ECD | Maternal, unaffected mother | 0/600 | NR | |
| 886G>T | Gly296Cys | Secundum ASD, PVS | 1/8 Patients with septal defects | Paternal, affected father (persistent left superior vena cava) | 0/500 | NR | |
| 1207C>A | Leu403Met | Hypoplastic RV, sinus venosus ASD | 1/9 Patients with RV hypoplasia | Unknown, no parental DNA available | 0/500 | NR | |
| Tomita-Mitchell et al., 2007 | 278G>C§ | Gly93Ala§ | Secundum ASD | 1/222 ASD patients | Mother carrier, father unknown | 0/318 | NR |
| 946C>G§ | Gln316Glu§ | ASD, small muscular VSDs, mild PVS | 1/137 VSD patients | Both parents unknown | 0/318 | NR | |
| 1232C>T§ | Ala411Val§ | VSD | 1/137 VSD patients | Both parents unknown | 0/318 | NR | |
| 1273G>A§ | Asp425Asn§ | ASD | 1/222 ASD patients | Mother carrier, father not carrier | 0/528 | NR | |
| 1273G>A§ | Asp425Asn§ | TOF | 1/201 TOF patients | Both parents unknown | 0/528 | NR | |
| Posch et al., 2008 | 1232C>T§ | Ala411Val§ | Cribriform ASD and PAPVR | 1/205 patients with congenital septal defects | unknown | 0/600 | NR |
ASD, atrial septal defect; AVSD, atrioventricular septal defect; ECD, endocardial cushion defect; NR, not reported; PAPVR, partial anomalous pulmonary venous return; PVS, pulmonary valve stenosis; RV, right ventricle; TOF, tetralogy of Fallot; VSD, ventricular septal defect.
§
Documented in SNP database but no further details available.
¥
Nucleotide +1 is the A of the ATG translation initiation codon.