Table 2.
Findings of genetic variants in our cohort with multiple anomalies.
| Sample | Onset Age | Gene | Variation | Zygosity | Variation Type | OMIM | Intervar [21] | Anomalies a | |
|---|---|---|---|---|---|---|---|---|---|
| Mouse model gene | I20 | 12 | KMT2C | NM_170606: c.2710C>T (p.R904X) | Het | nonsense | *606833 | Pathogenic | Unicornous uterus, left renal agenesis, et al. b |
| AXL | NM_001699.5: c.1316G>T (p.W439L) | Het | missense | *109135 | Uncertain significance | ||||
| I36 | 17 | TBX3 |
NM_005996.3: c.1447delC (p. F483Gfs18) |
Het | frameshift | *601621 | Pathogenic | NA | |
| Consist phenotype with reported anomalies | I7 | 12 | BRIP1 | NM_032043: c.2392C>T (p.R798X) | Het | nonsense | *605882 | Pathogenic | Upper vagina mediastinum |
| I34 | 16 | NDUFAF7 | NM_001083946.1: c.217-1580G>A | Het | splicing | *615898 | Pathogenic | Incomplete septate uterus | |
| PLXNA3 | NM_017514.4: c.154C>T (p.R52 *) | Het | nonsense | *300022 | Pathogenic | ||||
| I35 | 17 | MYLK | NM_001321309.1: c.1876G>T (p.E626 *) | Het | nonsense | *600922 | Pathogenic | Congenital ventricular septal defect | |
| MYF5 | NM_005593:c.G418T (p.E140X) | Het | nonsense | *159990 | Pathogenic | ||||
| I37 | 11 | ELN | NM_000501.3: c.1786+1G>A | Het | splicing | *130160 | Pathogenic | Bicornuate uterus | |
| ITGA7 | NM_001144996.1: c.3052C>T (p.R1018 *) | Het | nonsense | *600536 | Pathogenic |
Intervar: classification result of Intervar software; Het: heterozygous; Hom: Homozygous; a All patients have the complain of distal vaginal atresia. b In patient I20, other clinical records include congenital pulmonary artery stenosis with aortic valve widening, anal atresia and rectovestibular fistula. * in the variation column indicate truncation mutations.