Table 3.
Identification of genetic variants in patients with unique phenotypes of distal vaginal atresia.
| Sample | Onset Age | Gene | Variation | Zygosity | Variation Type | OMIM | Intervar [21] | Anomalies |
|---|---|---|---|---|---|---|---|---|
| I1 | 12 | CEP152 | NM_001194998.1: c.3925C>T (p.R1309 *) | Het | nonsense | *613529 | Pathogenic | Distal vaginal atresia |
| I4 | 14 | SLC12A2 | NM_001046.2: c.2804-2A>G | Het | splicing | *600840 | Pathogenic | |
| I8 | SPATA7 | NM_001040428.3: c.157C>T (p.R53 *) | Het | nonsense | *609868 | Pathogenic | ||
| I12 | SPINK1 | NM_003122: c.194+2T>C | Het | splicing | *167790 | Pathogenic | ||
| I19 | 16 | DNAH1 | NM_015512: c.2168A>G (p.E723G) | Het | nonsense | *603332 | Pathogenic | |
| I21 | RTTN | NM_173630.3: c.350C>A (p.S117 *) | Het | nonsense | *610436 | Pathogenic | ||
| I22 | PLEC | NM_201384.2: c.6715G>T (p.E2239 *) | Het | nonsense | *601282 | Pathogenic | ||
| I23 | 13 | ZFPM2 | NM_012082.3: c.1015G>A (p.V339I) | Hom | missense | *603693 | Uncertain significance | |
| I23-F* | - | ZFPM2 | NM_012082.3: c.1015G>A (p.V339I) | Het | missense | *603693 | Uncertain significance | |
| I23-M# | - | ZFPM2 | NM_012082.3: c.1015G>A (p.V339I) | Het | missense | *603693 | Uncertain significance | |
| I26 | 16 | DHX37 | NM_032656.3: c.2792C>T (p.A931V) | Het | missense | *617362 | Uncertain significance | |
| I27 | 14 | WNT9B | NM_003396: c.G938A (p.S313N) | Het | missense | *602864 | Uncertain significance | |
| I28 | 14 | CTNND1 | NM_001085458.1: c.2833G>T (p.E945 *) | Het | nonsense | *601145 | Pathogenic | |
| COL4A6 | NM_001287760: c.4608G>A (p.W1536X) | Het | nonsense | *303631 | Pathogenic | |||
| WNT9B | NM_003396: c.566G>A (p.R189Q) | Het | missense | *602864 | Uncertain significance | |||
| I33 | 12 | CRELD1 | NM_015513.4: c.257+1G>T | Het | splicing | *607170 | Pathogenic | |
| ZP1 | NM_207341.3: c.199G>T (p.E67 *) | Het | nonsense | *195000 | Pathogenic | |||
| I39 | INPP5E | NM_001318502.1:c.1532G>A (p.R511E) | Hom | missense | *613037 | Uncertain significance | ||
| I41 | 12 | FANCC | NM_001243743.1: c.996+1G>A | Het | splicing | *613899 | Pathogenic | |
| I41-F* | - | FANCC | NM_001243743.1: c.996+1G>A | Het | splicing | *613899 | Pathogenic | |
| I43 | 19 | ERBB3 | NM_001982.3: c.2900G>A (p.R967K) | Het | missense | *190151 | Uncertain significance | |
| ERBB3 | NM_001982.3: c.3637A>T (p.R1213W) | Het | missense | *190151 | Uncertain significance |
I23-F*: father of patient I23; I23-M#: mother of patient I23; I41-F*: father of patient I41. Intervar: classification result of Intervar software; Het: heterozygous; Hom: homozygous. * in the variation column indicate truncation mutations.