Table 1.
Exonic variants found in the patient which could potentially influence ovarian stimulation
| Gene | RefSeq | Variant found* | Nt change | AA change | Patient status | MAF† (%) | SIFT prediction | PolyPhen prediction |
|---|---|---|---|---|---|---|---|---|
| LHCGR | NM_00023.3 | rs2293275 | c.935A > G | p.Asn312Ser | Homozygous | 36,5 | Tolerated | Benign |
| FSHR | NM_000145.3 | rs6166 | c.2039G > A | p.Ser680Asn | Carrier | 40,2 | Tolerated | Benign |
| rs6165 | c.919G > A | p.Ala307Thr | Carrier | 48,6 | Tolerated | Benign | ||
| CYP19A1 | NM_031226.2 | rs700518 | c.240A > G | p.= | Homozygous | 36,8 | NR | NR |
| ESR1 | NM_000125.3 | rs2077647 | c.30 T > C | p.= | Carrier | 43,2 | NR | NR |
| PGR | NM_000926.4 | rs500760 | c.2658A > G | p.= | Carrier | 29,1 | NR | NR |
| AMH | NM_000479.3 | rs10407022 | c.146G > T | p.Ser49Ile | Homozygous | 32,7‡ | Deleterious | Possibly damaging |
| MTHFR | NM_005957.4 | rs4846051 | c.1305C > T | p.= | Homozygous | 7,4 | NR | NR |
| rs1801131 | c.1286A > C | p.Glu429Ala | Carrier | 22,8 | Tolerated | Benign | ||
| rs1801133 | c.665C > T | p.Ala222Val | Carrier | 32,5 | Deleterious | Probably damaging |
Although variants rs10407022 and rs1801133 were predicted as potentially deleterious/damaging, these variants are present in at least one third of the general population, making them unlikely candidate variations to justify the occurrence of severe OHSS
*no variants were found for the following genes: AMHR2, LHB, CYP11A1, ESR2, VEGFR1/VEGFR2/VEGF, SOD2, SHBG, GDF9, BMP15, FOLR1, P53, PAI and TNF
†Minor Allele Frequency, assessed on September 26th, 2014
‡In Europe, 75 % of the population is homozygous TT (30), making