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GENETI C CAUSES OF FEMALE I NFERTI LI TY ( POI )
MOLECULAR (non-syndromic)
X‐linked
PGRMC1 (1,5%) Xq22‐q24
X‐linked candidate genes
Autosomal candidate genes
BMP15 (1,5‐12%) Xp11.2
ADAMTS19 5q23.3
AMH 19p13.3
AMHR2 12q13
CITED2 6q23.3
FSHR 2p16.3 AD& AR
GDF9 5q31.1
GPR3 1p36.1‐p35
HFM1 1p22.2 AR
NR5A1 9q33
POR 7q11.23
POU5F1 6p21.31
PSMC3IP 17q21.2
AR Xq12
CDKN1B 12p13.1‐p12
INHA
INHBA INHBB
2q35 7p15‐p13 2cen‐q13
PTEN 10q23.3
AFF2 (FMR2) Xq28
FOXO4 Xq13.1
CYP17A1 10q24.32 CYP19A1 15q21.2
KITLG 12q22
RCBTB1 13q14.2
POF1B Xq21.2
DAZL 3p24.3
LHCGR 2p16.3 AR
SALL4 20q13.2
DACH2 Xq21.3
DMC1 22q13.1
LHX8 1p31.1
SGO2 2q33.1
DDX3X Xp11.4
ERCC6 (CSB‐ 10q11.23 PGBD3)
LMNA 1q22
SOHLH1 9q34.3 SOHLH2 13q13.3
DIAPH2 Xq21.33
USP9X Xp11.4
XPNPEP2 Xq26.1
Mitochondrial
ESR1 6q25.1‐q25.2
FIGLA 2p13.3
FOXL2 3q22.3
MCM8 20p12.3 AR
MCM9 6q22.31 AR
MSH4 1p31 MSH5 6p21.3
SPO11 20q13.31
STAG3 7q22.1 AR
mtDNA 
NANOS1 NANOS2 NANOS3
10q26.11 19q13.32 19p13.13
SYCE1 10q26.3 AR
FOXO1 13q14.1
FOXO3 6q21
NOBOX The AB7Cq3o5f next generationTsGeFqBuRe3ncing-based g1epn3e3t‐ipc3d2iagnostics in fertility 2018 | 11
WNT4 1p36.23‐p35.1 8 - 6 -
NUP107 12q15
GENETI C CAUSES OF FEMALE I NFERTI LI TY ( POI )
MOLECULAR (syndromic)
Gene
Syndrome
Chr location
Gene
Syndrome
Chr location
FMR1 (1,5‐15%)
Fragile X syndrome
Xq27.3
FOXL2
BPES
3q23
AARS2
Leukodystrophy
6p21.1,
GALT
Galactosemia
9p13
AIRE
APECED
21q22.3
NOG
Proximal symphalangism, SYM1
17q22
ANTXR1
GAPO disease
2p13.3
PMM2
Congenital disorder of glycosylation type 1a
16p13
ATM
Ataxia telangiectasia
11q22.3
POLG
Mitochondrial diseases
Progressive external ophthalmoplegia, PEO
15q25
BLM
Bloom syndrome
15q26.1
HSD17B4 HARS2 CLPP LARS2 C10orf2
Perrault Syndrome
5q21 5q31.3 19p13.3 3p21.3 10q24
BMPR1B
Demirhan Syndrome
4q22.3
RECQL4
Rothmund–Thomson syndrome, RTS
8q24.3
BMPR2
Pulmonary hyprtension
2q33.1‐q33.2
STAR
Congenital lipoid adrenal hyperplasia
EIF2B
Ovarioleucodystrophy
EIF2B2‐14q24.3; EIF2B4‐2p23.3; EIF2B5‐3q27.1 EIF4ENIF1‐22q12.2
WRN
Werner syndrome
8p12
FANCA FANCC FANCG
Fanconi anemia
FANCA‐16q24.3, FANCC‐ 9q22.32 FANCG‐9p13.3
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