Open Access
Tableau I.
Polymorphismes des gènes ZP et phénotypes associés. ZP : zone pellucide ; SFV : syndrome du follicule vide ; SOPK : syndrome des ovaires polykystiques.
| Identification OMIM | Gène | Variant | Phénotype | Référence |
|---|---|---|---|---|
| 195000 | ZP1 | c.1708G > A (p.V570M) | Absence de ZP | [54] |
| 195000 | ZP1 | c.1228C > T (p.R410W) | Absence de ZP | [54] |
| 195000 | ZP1 | c.507del (p.H170Ifs*52) | Absence de ZP | [54] |
| 195000 | ZP1 | c.1430 + 1G > T (p.C478X) | Absence de ZP | [54] |
| 195000 | ZP1 | c.1775-8T > C (p.D592Gfs*29) | Absence de ZP | [54] |
| 195000 | ZP1 | c.326G>A (p.R109H) | Absence de ZP | [27] |
| 195000 | ZP1 | c.1260C > G (p.Y420X) | SFV | [55] |
| 195000 | ZP1 | c.874C>T (p.Q292*) | Absence de ZP | [56] |
| 195000 | ZP1 | c.1127_1128delCT (p.A376GTer386) | Absence de ZP | [56] |
| 195000 | ZP1 | c.199G > T (p.E67Ter) | SFV | [51] |
| 195000 | ZP1 | c.247T>C (p.W83R) | Anomalies morphologiques ovocytaires | [33] |
| 195000 | ZP1 | c.1413G>A (p.W471X) | Anomalies morphologiques ovocytaires | [33] |
| 195000 | ZP1 | c.181>T (p.R61C) | SFV et anomalies ovocytaires | [57] |
| 195000 | ZP1 | c.1169_1176delTTTTCCCA (p.I390Tfs*16) | SFV et anomalies ovocytaires | [57] |
| 195000 | ZP1 | c.1510C>T (p.R504Ter) | SFV | [49] |
| 195000 | ZP1 | c.1014+1G>A | SFV | [49] |
| 195000 | ZP1 | c.123C>A (p.Y41Ter) | SFV | [49] |
| 195000 | ZP1 | c.1663C>T (p.R555Ter) | SFV | [49] |
| 195000 | ZP1 | c.1129_1130del (p.V377LfsTer5) | SFV | [49] |
| 195000 | ZP1 | c.508del (p.H170IfsTer52) | SFV | [49] |
| 195000 | ZP1 | c.1573-2A>G | SFV | [49] |
| 195000 | ZP1 | c. 170 _ 174del (p.G57Dfs*9) | Absence de ZP, dégénérescence ovocytaire et SFV | [58] |
| 195000 | ZP1 | c.1169_1176delTTTTCCCA (p.I390Tfs*16) | Absence de ZP, dégénérescence ovocytaire et SFV | [58] |
| 195000 | ZP1 | c.1097G>A (p.R366Q) | Dégénérescence ovocytaire | [29] |
| 195000 | ZP1 | c.1775-3C>A | Défaut de maturation ovocytaire | [59] |
| 195000 | ZP1 | c.858C>T | Lyse ovocytaire | [60] |
| 195000 | ZP1 | c.1078C>A (p.P360T) | Lyse ovocytaire | [60] |
| 182888 | ZP2 | c.1859G > A (p.C620Y) | ZP anormale | [61] |
| 182888 | ZP2 | c.1421 T > C (p.L474P) | ZP anormale | [61] |
| 182888 | ZP2 | c.1952G>A (p.R642Q) | SFV | [62] |
| 182888 | ZP2 | c.1599G>T (p.R533S) | Anomalies morphologiques ovocytaires | [33] |
| 182888 | ZP2 | c.1696T>C (p.C566R) | Anomalies morphologiques ovocytaires | [33] |
| 182888 | ZP2 | c.1115G >C (p.C372S) | Absence de ZP ou ZP amincie | [54] |
| 182888 | ZP2 | c.1691_1694dup (p.C566Wfs*5) | ZP amincie | [32] |
| 182888 | ZP2 | c.G130A (p.G44S) | ZP amincie avec absence de la protéine ZP2 | [32] |
| 182888 | ZP2 | c.1695-2A>G (p.C566Hfs*5) | ZP amincie avec absence de la protéine ZP2 | [32] |
| 182888 | ZP2 | c.1-73G>T | Lyse ovocytaire | [60] |
| 182888 | ZP2 | c.747T>C | Lyse ovocytaire | [60] |
| 182889 | ZP3 | c.763C>G (p.R255G) | Absence de ZP | [54] |
| 182889 | ZP3 | c.518C>G (p.S173C) | SFV et ZP anormale | [63] |
| 182889 | ZP3 | c.400G>A (p.A134T) | Absence de ZP | [27] |
| 182889 | ZP3 | c.565_579del (p.T189_G193del) | SFV | [35] |
| 182889 | ZP3 | c.91G>A (p.G31R) | Lyse ovocytaire | [60] |
| 613514 | ZP4 | c.3 G > C (p.M1?/) | Endométriose ovarienne | [26] |
| 613514 | ZP4 | c.1298C > T (p.A433 V) | Endométriose ovarienne | [26] |
| 613514 | ZP4 | c.T114G (p.C223G) | SOPK | [64] |
| 613514 | ZP4 | c.1216T>C | Lyse ovocytaire | [60] |
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