Table 1.
Targeted POI genes list
| Genes | No. OMIM | Syndromic/nonsyndromic | Mode of inheritance | OMIM phenotype |
|---|---|---|---|---|
| FSHR | 136435 | Nonsyndromic | AR | Ovarian dysgenesis 1 |
| PSMC3IP | 608665 | Nonsyndromic | AR | Ovarian dysgenesis 3 |
| MCM9 | 610098 | Nonsyndromic | AR | Ovarian dysgenesis 4 |
| SOHLH1 | 610224 | Nonsyndromic | AR | Ovarian dysgenesis 5 |
| DIAPH2 | 300108 | Nonsyndromic | XLD | Premature ovarian failure 2A? |
| POF1B | 300603 | Nonsyndromic | XLR | Premature ovarian failure 2B? |
| BMP15 | 300247 | Nonsyndromic | XLD |
Premature ovarian failure 4 Ovarian dysgenesis 2 |
| NOBOX | 610934 | Nonsyndromic | AD | Premature ovarian failure 5 |
| FIGLA | 608697 | Nonsyndromic | AD | Premature ovarian failure 6 |
| NR5A1 | 184757 | Nonsyndromic | AD | Premature ovarian failure 7 |
| STAG3 | 608489 | Nonsyndromic | AR | Premature ovarian failure 8 |
| HFM1 | 615684 | Nonsyndromic | AR | Premature ovarian failure 9 |
| MCM8 | 608187 | Nonsyndromic | AR | Premature ovarian failure 10 |
| ERCC6 | 609413 | Nonsyndromic | AD | Premature ovarian failure 11 |
| PGBD3 | N/A | Nonsyndromic | AD | Premature ovarian failure 11 |
| SYCE1 | 611486 | Nonsyndromic | AR | Premature ovarian failure 12 |
| MSH5 | 603382 | Nonsyndromic | AR | Premature ovarian failure 13 |
| GDF9 | 601918 | Nonsyndromic | AR/AD | Premature ovarian failure 14 |
| ADAMTS19 | 607513 | Nonsyndromic | AD? | / |
| AMHR2 | 600956 | Nonsyndromic | AD? | / |
| BMPR2 | 600799 | Nonsyndromic | AD ? | / |
| CDKN1B | 600778 | Nonsyndromic | AD ? | / |
| CITED2 | 602937 | Nonsyndromic | AD ? | / |
| COL4A6 | 303631 | Nonsyndromic | XL? | / |
| CPEB1 | 607342 | Nonsyndromic | AD ? | / |
| DACH2 | 300608 | Nonsyndromic | AD ? | / |
| DAZL | 601486 | Nonsyndromic | AR? | / |
| DMC1 | 602721 | Nonsyndromic | AR? | / |
| DNAH6 | 603336 | Nonsyndromic | AD ? | / |
| EIF4ENIF1 | 607445 | Nonsyndromic | AD | / |
| FOXO3 | 602681 | Nonsyndromic | AD ? | / |
| FOXO1 | 136533 | Nonsyndromic | AD ? | / |
| HS6ST1 | 604846 | Nonsyndromic | AD ? | / |
| INHA | 147380 | Nonsyndromic | AD ? | / |
| LHCGR | 152790 | Nonsyndromic | AR | / |
| NLRP5 | 609658 | Nonsyndromic | AD ? | / |
| NANOS3 | 608229 | Nonsyndromic | AD/AR | / |
| NXF5 | 300319 | Nonsyndromic | XL? | / |
| PGRMC1 | 300435 | Nonsyndromic | XL? | / |
| POU5F1 | 164177 | Nonsyndromic | AD ? | / |
| SALL4 | 607343 | Nonsyndromic | AD ? | / |
| SOHLH2 | 616066 | Nonsyndromic | AD ? | / |
| TGFBR3 | 600742 | Nonsyndromic | AD ? | / |
| XPNPEP2 | 300145 | Nonsyndromic | XL? | / |
| FOXL2 | 605597 | Syndromic | AD |
Blepharophimosis, epicanthus inversus, and ptosis, type 1 Premature ovarian failure 3 |
| CYP17A1 | 609300 | Syndromic | AR | 17-alpha-hydroxylase/17,20-lyase deficiency |
| POLG | 174763 | Syndromic | AD/AR | Progressive external ophthalmoplegia |
| AIRE | 607358 | Syndromic | AR | Autoimmune polyendocrinopathy syndrome, type I |
| BLM | 604610 | Syndromic | AR | Bloom syndrome |
| HSD17B4 | 601860 | Syndromic | AR | Perrault syndrome 1 |
| LARS2 | 604544 | Syndromic | AR | Perrault syndrome 2 |
| CLPP | 601119 | Syndromic | AR | Perrault syndrome 3 |
| HARS2 | 600783 | Syndromic | AR | Perrault syndrome 4 |
| C10orf2 | 606075 | Syndromic | AR | Perrault syndrome 5 |
| EIF2B2 | 606454 | Syndromic | AR | Ovarioleukodystrophy |
| EIF2B4 | 606687 | Syndromic | AR | Ovarioleukodystrophy |
| EIF2B5 | 603945 | Syndromic | AR | Ovarioleukodystrophy |
| LMNA | 150330 | Syndromic | AD | Malouf syndrome 1A |
| NOG | 602991 | Syndromic | AD | Symphalangism, proximal, 1A |
| WRN | 604611 | Syndromic | AR | Werner syndrome |
AD autosomal dominant inheritance, AR autosomal recessive inheritance, XLD X-linked dominant inheritance, XLR X-linked recessive inheritance; a question mark indicates that it is candidate gene, and the mode of inheritance is not sure