Table 1.

List of candidate genes implicated in non-syndromic POI.

Classification	Gene	Mechanism of Action (MOA)	Evidence of POI-Relating
Meiosis and DNA Replication and Repair	HFM1	Homologous recombination and synapsis [38,39,40]	c.1006 + 1G > T, p.G1034S [41]
	PRIM1	DNA replication and repair [42]	SNP rs2277339 [43]
	STAG3	Synapsis [44]	c.1950C > A, p.Tyr650* [45]
	MCM8	Homologous recombination and DNA synthesis [46]	c.724T > C, p.C242R [47]
	MCM9	Homologous recombination and DNA synthesis [46]	c.1483G > T, p.E495* [48]
	DMC1	DNA strand exchange and DNA repair [49]	c.106G > A, p.Asp36Asn [50]
	MCL-1	Mitosis–meiosis transition [51]	MCL-1 knockout mice show similar presentations to POI patients [52]
	MSH4	Synapsis and DNA repair [38]	c.2261C > T, p.Ser754Leu [53]
	MSH5	Synapsis and DNA repair [38]	c. C1051G; p.R351G [54]
	MEIOB	Homologous recombination and DNA repairing [55]	c.258_259del [56]
	PSMC3IP	Homologous recombination [57]	c.489 C.G, p.Tyr163Ter [58]
	FANC group genes	Meiosis and folliculogenesis [59]	Mutations in FANC group genes can cause impaired meiosis and folliculogenesis such as c.1048_1051delGTCT, p.Gln350Valfs*18 in FANCL [60]
	SYCP2L	Synaptonemal complex assembly [61]	c.150_151del, p.Ser52profs*7 [61]
	HSF2BP	Homologous recombination [62]	c.382T > C, p.C128R [63]
	ZSWIM7	Homologous recombination [64]	c.173C > G, p.Ser58* [64]
Transcription Factor	SF-1	Gonadal and adrenal development and ovarian folliculogenesis and steroidogenesis [7]	c.74A > G, p.Y25C [65]
	NOBOX	Early folliculogenesis and cell cycle regulation [66,67]	c.567delG, p.T190Hfs*13 [67]
	SOHLH1	Gonadal glands and primordial follicles development [68]	p.Ser317Phe [69]
	SOHLH2	Gonadal glands and primordial follicles development [68]	c.235G > A, p.Glu79Lys [70]
	LHX8	Early oogenesis [71]	c.974C > T, p.A325V [72]
	FIGLA	Oogenesis [71]	c.2 T > C, p.Met1Thr [73]
Signaling molecules and receptors	FSHR	Follicular development and ovarian hormone regulation [74]	c.1253T > G, p.Ile418Ser [75]
	Inhibin family	Follicle-stimulating hormone regulation and folliculogenesis [33]	c.769G > A [76]
	AMHR2	Follicular development [77]	p.I209N [78]
	BMP15	Follicular development and granulosa cell protection [1]	c.791G > A, p.R264Q [79]
	GDF9	Follicular maturation and granulosa cell proliferation [80]	c.604C > T, p.Gln202* [81]
	LAT	Survival of granulosa cell [82]	c.245C > T and c.181C > G [82]
	VEGFA	Follicular development and ovarian function maintaining [83]	−1154G > A and 936C > T [83]
	BMPR1A	Formation of primordial follicle pool [84]	c.1325G > A, p.Arg442His [84]
	BMPR1B	Regulation of cumulus cell expansion and ovulation cycle [84]	c.761G > A, p.Arg254His [84]
RNA Metabolism and Translation	NANOS3	Cell antiapoptosis and translation repression [85]	c.358G > A, p.Glu120Lys [85]
	EIF4ENIF1	Translation repression [86]	c. 1286C > G, p.Ser429X [87]