Table 1.
Summary of Phenotypic and Molecular Data
| Family 1; Subject 1 | Family 1; Subject 2 | Family 2; Subject 3 | |
|---|---|---|---|
| Age of diagnosis | prenatal | prenatal | 3 weeks |
| Sex | male | male | female |
| Cardiac situs | ND | levocardia | dextrocardia |
| Atrial situs | solitus: normal systemic and pulmonary venous return | ambiguus: IVC, hepatics to L-sided atrium; R-SVC, PV to R-sided atrium | inversus: normal systemic and pulmonary venous connections with mirror image situs |
| AV valves and ventricles | U-AVSD; LV hypoplasia | U-AVSD; LV hypoplasia | CCTGA; LV hypoplasia; VSD |
| Great arteries | DORV with malposed great arteries | PA with MAPCAS; R-aortic arch | PA |
| Abdominal situs | inversus: R-sided stomach, L-sided liver, R-sided spleen | inversus: R-sided stomach, L-sided liver, R-sided spleen | inversus, R-sided stomach, L-sided liver, R-sided spleen |
| Nucleotide change (Hom) | c.6473+2_6473+3delTG | c.5072G>C | |
| Effect | splice donor site at exon 42/intron 42 boundary | p.Cys1691Ser | |
| Coordinate (Hg19) | chr7: 47,870,812–47,870,813 | chr7: 47,886,558 | |
| ExAC (Het) (African) | 3/10,394 | ND | |
| ExAC (Het) (Latinos) | 1/11,560 | ND | |
| ExAC (Het) (European) | 41/66,146 | ND | |
| In silico predictions | elimination of the splice donor site (see Figure S1) | SIFT (damaging); MutationTaster (disease-causing); PolyPhen-2 (damaging) | |
Abbreviations are as follows: CCTGA, congenitally corrected transposition of the great arteries (ventricular inversion); DORV, double outlet right ventricle; ExAC, Exome Aggregation Consortium; Hom, homozygous; Het, heterozygous; IVC, inferior vena cava; L, left; LV, left ventricle; MAPCAS, major aortopulmonary collaterals; ND, no data; PA, pulmonary atresia; PV, pulmonary veins; R, right; SVC, superior vena cava; U-AVSD, unbalanced atrioventricular septal defect; VSD, ventricular septal defect.