Table 4. Clinical characteristics of AVSD Probands with Rare Non-Synonymous Variants in Prioritized AVSD Genes.
| Proband ID | Sex | AVSD Type | Other Cardiac Lesions | Extracardiac anomaly | Gene | Variant | Validated? | Transmitted? |
|---|---|---|---|---|---|---|---|---|
| AVSD_15* | M | Partial | Double outlet LAVV | None | NIPBL | 5:26976188 T>G | o | Paternal |
| AVSD_72* | M | Complete | BAV (partial fusion) | migraines, extra help in reading/math | NIPBL | 5:26976188 T>G | Yes | Unknown |
| AVSD_88 | F | Partial | None | None | NIPBL | 5:36958288 A>G | o | Unknown |
| AVSD_65 | F | Partial | None | None | NIPBL | 5:36962301 G>A | Yes | Unknown |
| AVSD_33 | M | Unbalanced | DORV, PS | None | NIPBL | 5:37006555 A>G | Yes | Unknown |
| AVSD_25* | M | Intermediate | None | None | NIPBL | 5:37058993 T>A | Yes | Unknown |
| AVSD_15* | M | Partial | Double outlet LAVV | None | CHD7 | 8:61654268 A>G | o | Maternal |
| AVSD_13 | F | Complete | CoA, hypoplastic arch, PDA | LD | CHD7 | 8:61655009 A>G | Yes | Unknown |
| AVSD_50*# | M | Complete | None | None | CHD7 | 8:61655009 A>G | Yes | Maternal+ |
| AVSD_66# | F | Partial | None | None | CHD7 | 8:61655009 A>G | Yes | Unknown |
| AVSD_71 | M | Partial | None | hernia | CHD7 | 8:61655009 A>G | Yes | Unknown |
| AVSD_79 | F | Intermediate | RSCA,vertebral from AA | None | CHD7 | 8:61748826 T>C | Yes | Paternal |
| AVSD_26 | F | Partial | None | None | CHD7 | 8:61765598 C>T | Yes | Maternal |
| AVSD_49 | M | Intermediate | None | None | CHD7 | 8:61768745 C>G | Yes | Not Paternal |
| AVSD_73 | M | Unbalanced | HLV & AA, CoA, LPV stenosis | sagittal synostosis, hypospadias, cryptorchidism, DD, IUGF, nephrocalcinosis | CHD7 | 8:61769418 A>C | Yes | Unknown |
| AVSD_19 | F | Complete | Secundum ASD | LD | CEP152 | 15:49030841 T>C | Yes | Paternal |
| AVSD_20 | M | Partial | None | None | CEP152 | 15:49048132 G>C | Yes | Unknown |
| AVSD_63 | F | Intermediate | Secundum ASD, multiple VSD | None | CEP152 | 15:49048567 A>G | o | Unknown |
| AVSD_64 | M | Complete | None | Hirschsprung | CEP152 | 15:49048567 A>G | Yes | Maternal |
| AVSD_72* | M | Complete | BAV (partial fusion) | migraines, extra help in reading/math | CEP152 | 15:49048567 A>G | Yes | Unknown |
| AVSD_41 | M | Complete | None | None | CEP152 | 15:49064725 G>T | Yes | Unknown |
| AVSD_15* | M | Partial | Double outlet LAVV | None | CEP152 | 15:49076311 T>C | o | Paternal |
| AVSD_38*# | M | Partial | None | None | CEP152 | 15:49089864 A>C | Yes | Unknown |
| AVSD_17 | F | Unbalanced | CoA, LSVC to CS | None | BMPR1a | 10:88681396 G>T | Yes | Maternal |
| AVSD_57# | M | Complete | multiple VSD, LSVC to CS | LD, psychiatric, cervical spine anomalies | BMPR1a | 10:88683223 G>A | Yes | Unknown |
| AVSD_2 | F | Complete | None | None | BMPR1a | 10:88683231 C>T | Yes | Unknown |
| AVSD_53* | F | Complete | PA/MAPCAS, LSVC to CS | Bilateral coloboma, bicornuate uterus, Bockdalek diaphragmatic hernia, midline spleen, hydrocephalus | ZFPM2 | 8:106431420 C>G | Yes | Unknown |
| AVSD_74*# | F | Partial | None | None | ZFPM2 | 8:106431420 C>G | Yes | Unknown |
| AVSD_10* | M | Partial | PDA | None | ZFPM2 | 8:106456600 G>A | Yes | Unknown |
| AVSD_24 | M | Complete | None | None | ZFPM2 | 8:106456600 G>A | Yes | Paternal |
| AVSD_25* | M | Intermediate | None | None | ZFPM2 | 8:106456600 G>A | Yes | Unknown |
| AVSD_53* | F | Complete | PA/MAPCAS, LSVC to CS | Bilateral coloboma, bicornuate uterus, Bockdalek diaphragmatic hernia, midline spleen, hydrocephalus | ZFPM2 | 8:106813787 C>T | Yes | Unknown |
| AVSD_38*# | M | Partial | None | None | ZFPM2 | 8:106813942 G>A | Yes | Unknown |
| AVSD_46 | M | Complete | None | None | ZFPM2 | 8:106813942 G>A | Yes | Unknown |
| AVSD_50*# | M | Complete | None | None | ZFPM2 | 8:106814597 G>A | Yes | Paternal |
| AVSD_74*# | F | Partial | None | None | ZFPM2 | 8:106814597 G>A | Yes | Unknown |
| AVSD_45 | F | Partial | PDA | Congenital rubella syndrome, epilepsy, hearing impairment, blindness, psychiatric disorder | ZFPM2 | 8:106815359 G>A | Yes | Unknown |
| AVSD_10* | M | Partial | PDA | None | MDM4 | 1:204518457 A>C | Yes | Unknown |
| AVSD_39 | F | Complete | LVOTO | None | MDM4 | 1:204518457 A>C | Yes | Paternal |
| AVSD_80 | M | Unknown | LVOTO | None | MDM4 | 1:204518457 A>C | Yes | Unknown |
| AVSD_85 | M | Complete | LSVC to CS, RAA | None | MDM4 | 1:204518457 A>C | Yes | Unknown |
| AVSD_87 | F | Partial | PDA | None | MDM4 | 1:204518457 A>C | Yes | Unknown |
| AVSD_29 | F | Partial | PDA | None | MDM4 | 1:204518499 C>G | Yes | Paternal |
Genomic position for human genome assembly 37/build 105. All variants are heterozygous. * probands with > 1 variant, o sample/validation not available, +Inherited from mother also affected with AVSD, # of CHD family history
Abbreviations: M – male, F – female; AA - aortic arch, ASD - atrial septal defect, BAV - bicuspid aortic valve, CoA - coarctation of the aorta, DORV - double outlet right ventricle, HLV - hypoplastic left center ventricle, LAVV - left center atrioventricular valve, LPV - left center pulmonary vein, LSVC to CS - left center superior vena cava to the coronary sinus, LVOTO - left center ventricular outflow tract obstruction, PA/MAPCAS - pulmonary atresia with major aortopulmonary collaterals, PDA - patent ductus arteriosus, RAA - right aortic arch, RSCA - right subclavian artery, VSD - ventricular septal defect