Table 2.

The currently reported genotypes leading to empty follicle syndrome

Mutated genes	cDNA change	Amino acid change	Mutation type	Genotype	Inheritancea	Reference
LHCGR	c.1199A > G	p.N400S	Missense	Homozygous	AR	Yariz et al. 2011 (9)
LHCGR	c.1345G > A	p.Ala449Thr	Missense	Homozygous	AR	Yuan et al. 2017 (11)
LHCGR	c.736 C > T	p.Q246*	Nonsense	Homozygous	AR	Chen et al. 2018 (12)
LHCGR	c.846dupT	p.R283*	Nonsense	Homozygous	AR	Chen et al. 2018 (12)
LHCGR	c.T32C	p.Leu11Pro	Missense	Homozygous	AR	Zhang et al. 2020 (13)
LHCGR	c.384-2A > T; c.32_58dupTGAAGCTGCTGCTGCTG CTGCAGCCGC	p.Leu11_Pro19dup	Splicing; in-frame insertion	Compound heterozygous	AR	Zhang et al 2020 (13)
ZP1	c.170_174delGCCAG; c.1169_1176delTTTTCCCA	p.G57Dfs*9; p.I390Tfs*16	Frameshift	Compound heterozygous	AR	Sun et al. 2019 (16)
ZP1	c.1228C > T	p.Arg410Trp	Missense	Homozygous	AR	Zhou et al. 2019 (18)
ZP1	c.181C > T; c.1169-1176del	p.Arg61Cys; p.Ile390Thrfs*16	Missense; frameshift	Compound heterozygous	AR	Yuan et al. 2019 (19)
ZP1	c.1129-1130del	p.Val377LeufsTer5	Frameshift	Homozygous	AR	Dai et al. 2019 (15)
ZP1	c.508del; c.1573-2A > G	p.His170IlefsTer52;NA	Frameshift; splicing	Compound heterozygous	AR	Dai et al. 2019 (15)
ZP1	c.123C > A; c.1663C > T	p.Tyr41Ter; p.Arg555Ter	Nonsense	Compound heterozygous	AR	Dai et al. 2019 (15)
ZP1	c.1510C > T	p.Arg504Ter	Nonsense	Homozygous	AR	Dai et al. 2019 (15)
ZP1	c.1014 + 1G > A	NA	Splicing	Homozygous	AR	Dai et al. 2019 (15)
ZP1	c.507delC; c.239 G > A; c.241 T > C	p. His170fs; p. Cys80Tyr; p. Tyr81His	Frameshift; missense	Compound Heterozygous	AR	Luo et al. 2020 (17)
ZP1	c.769 C > T	p. Q257*	Nonsense	Homozygous	AR	Xu et al. 2020 (21)
ZP1	c.2 T > A; c.1112 + 1G > T	p. M1K; p. Val339Aspfs*11	Missense; splice site	Compound heterozygous	AR	Liu et al. 2020 (20)
ZP1	c.199G > T	p.Glu67Ter	Nonsense	Homozygous	AR	This study
ZP3	c.400 G > A	p.Ala134Thr	Missense	Heterozygous	AD	Chen et al. 2017 (14)

^aAR autosomal recessive, AD autosomal dominant