Table 3.
Overview of the HFM1 variants observed in the reported individual
| PMID | Variant (NM_001017975.6) | Type of variant | Amino acid change | Female phenotype | Follicle | Male phenotype | Pregnancy outcomes | |
|---|---|---|---|---|---|---|---|---|
| Our study | - | c. [1730-1G > T] | Homozygous splice site | p.? | POR |
2–3 antral follicle was observed in each ovary |
NOA | Male infertility and female subfertility |
| Yu L et al. (2022) | 35881270 |
MT1c. [1978-2A > C] MT2 c. [2680 + 3_2680 + 4delAT] |
Compound heterozygous splice site + frameshift by deletion | p.? | DOR and RPL | Only one antral follicle was observed in each ovary | - |
Three pregnancy losses in natural conception; two of which were biochemical, while embryo stopped developing at 7–8 weeks in the remaining one pregnancy |
| Xie X et al. (2022) | 35526155 | MT3: c. [1472 T > C] | Homozygous missense | p. [L491P] | - | - | NOA | NA |
| MT4: c. [1355G > A] | Homozygous missense | p. [R452Q] | - | - | NOA | NA | ||
|
MT5: c. [2562_2563delAA]; MT6 c. [4126del] |
Compound heterozygous frameshift by deletion + frameshift by deletion |
p. [E856Nfs*56]; [E1376Rfs*49] |
- | - | NOA | NA | ||
|
MT7: c. [2487_2491del]; MT8: c. [3490C > T] |
Compound heterozygous frameshift by deletion + stop-gain |
p. [ K829Nfs*23]; [Q1164*] |
- | - | NOA | NA | ||
| Saebnia N et al. (2022) | 35486194 | MT9: c. [1832-2A > T] | Homozygous splice site | p.? | - | - | NOA | NA |
| Kherraf ZE et al. (2022) | 35172124 | MT10: c. [3588 + 1G > A] | Homozygous splice site | p.? | - | - | NOA | NA |
| Tucker EJ et al. (2022) | 34707299 | MT11: c. [2410G > T] | Homozygous stop-gain | p.[E804*] | POI | Absent | - | NA |
| Tang D et al. (2021) | 34429122 | MT8: c. [3490C > T] | Homozygous stop-gain | p.[Q1164*] | - | - | NOA | NA |
| MT12: c. [3470G > A] | Homozygous missense | p.[C1157Y] | - | - | NOA | NA | ||
| Liu H et al. (2020) | 32962729 |
MT13: c. [3100G > A]; MT14: c. [1006 + 1G > T] |
Compound heterozygous missense + splice site |
p. [G1034S]; ? | POI | Absent | - | NA |
| Zhe J et al. (2019) | 31279343 | MT12: c. [3470G > A] | Heterozygous missense | p. [C1157Y] | POI | Only one antral follicle was observed in the left ovary | - | Natural pregnancy, but the embryo stopped to develop at 8 weeks |
| Wang J et al. (2014) | 24597873 |
MT15: c. [1686-1G > C]; MT16: c. [2651 T > G] |
Compound heterozygous splice site + missense |
p.?; [I884S] | POI | NA | - | NA |
|
MT17: c. [2206G > A]; MT18: c. [3929_3930delinsG] |
Compound heterozygous missense + frameshift by deletion and insertion |
p.[G736S]; [P1310Rfs*41] | POI | NA | - | NA |
POR, poor ovarian response; DOR, diminished ovarian reserve; RPL, recurrent pregnancy loss; POI, premature ovarian insufficiency; NOA, non-obstructive azoospermia; NA, not applicable