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GENETIC CAUSES OF MALE INFERTILITY
MOLECULAR (non-syndromic)
Quantitative
Morphological
Motility
Spermatogenesis
GWAS
ADGRG2
(obstructive)
SIRPG
AURKc
CFAP43
AR CAG repeats
FASLG
CFTR (obstructive)
SPINK2
BRDT
CFAP43
POLG
JMJDIA
DNAH6
SYCE1
CEP135
CFAP65
MTHFR
LOC203413
DNMT3L
SYCP3
DNAH1
DNAH1
DAZL
OR2W3
HLA‐DQA1
TAF4B
DPYDL2
FSHR
INSR
HLA‐DRB1
TDRD9
NPHP4
ER
TAS2R38
MAGEB4
TEX14
SUN5
MEIOB
TEX15
NPAS2
ZMYND15
SIRPA
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GENETIC CAUSES OF MALE INFERTILITY
MOLECULAR (syndromic)
Gene(s) Syndrome Gene(s) Syndrome
FGD1 Aarskog–Scott syndrome
RRM2B Kearns–Sayre syndrome
AR SRD5A2 AIS
ADRB3 ANK2 ADIPOQ TFR2 LRP6 metabolic syndrome
BBS1 BBS12 BBS2 BBS7 BBS4 BBS10 MKKS ARL6 TRIM32 ALMS1 BBS9 IFT172 TTC8 BBS5 SDCCAG8 ABCC8 C8orf37 NPHP1 IFT74 WDPCP MKS1 LZTFL1 TRAPPC3 RET ttc8r FBN3 IFT27 TMEM67 RPGRIP1L BBIP1 CEP290 TTC21B CRB1 KIF7 SCLT1 CORO2B
Bardet–Biedl syndrome
PTPN11 A2ML1 RIT1 KRAS SOS1 NRAS SOS2 Noonan syndrome LZTR1 RAF1 BRAF MAP2K2 NF1 MAP2K1
SPRY1 MAP3K8 RASA2
STRC CATSPER2 deafness–infertility syndrome
AMH AMHR2 Persistent Mullerian duct syndrome
FGFR1 ANOS1 SEMA3A PROKR2 SOX10 CHD7 FGF8 FGF17 IL17RD DUSP6 SPRY4 FLRT3 WDR11 HESX1 PROK2 TACR3 GAP43 CCKBR PALM2 TSPAN11 KISS1R CCDC141 SEMA3E NSMF fgfr18a GNRHR FEZF1 HS6ST1
Kalmann syndrome
AIRE Polyglandular failure syndrome types I and II
DNAH5 DNAI1 Kartagener syndrome
SNRPN Prader–Willi syndrome
Shamsi MB et al. Genetic and epigenetic factors: Role in male infertility, Indian J Urol. 2011, PMID: 21716934
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