Table 1 Variants of known causative genes for male infertility detected in the study
From: Whole exome sequencing analysis of 167 men with primary infertility
Gene | Patient | Semen characteristics | Variation | Zygosity | SIFT/PolyPhen/MutationTaster/CADD/GERP | Reference |
|---|---|---|---|---|---|---|
ACTRT1 | M1555 | Oligoasthenoteratozoosp-ermia (OAT) | NM_138289.4:c.169G > A;p.(Val57Met) | Hemi | D/P/N/14.14/-0.162/ | Sha et al., 2021 [10] |
ADAD2 | M1292 | Non-obstructive azoospermia (NOA) | NM_001145400.2:c.1459 C > T;p.(Leu487Phe) | Het | D/D/D/27/4.36/ | Dai et al., 2023 [11] |
NM_001145400.2:c.1557 C > G;p.(Cys519Trp) | Het | D/D/D/24.3/-0.113/ | ||||
AR | M1472 | NOA | NM_001011645.3:c.2T > G;p.(M1?) | Hemi | D/B/D/8.163/-0.63/ | Giwercman et al., 2001 [12] |
BCORL1 | M1201 | Oliogasthenozoospermia | NM_001184772.3:c.56G > A;p.(Arg19Gln) | Hemi | D/D/D/25.6/4.72/ | Lu et al., 2021 [13] |
CFAP47 | M1294 | NOA | NM_001304548.2:c.1744G > T;p.(Asp582Tyr) | Hemi | D/D/N/22/-0.786/ | Liu et al., 2021 [14] |
M1568 | OAT | NM_001304548.2:c.1763 C > T;p.(Pro588Leu) | Hemi | D/D/D/26.1/5.35/ | ||
M850 | Oliogasthenozoospermia | NM_001304548.2:c.2609G > A;p.(Arg870Gln) | Hemi | D/D/N/13.88/3.25/ | ||
DNAH17 | M1233 | NOA | a NM_173628.4:c.12488T > G;p(.Phe4163Cys) | Het | NA/P/D/28.3/5.07/ | Whitfield et al., 2019 [15] |
NM_173628.4:c.3644G > C;p.(Arg1215Thr) | Het | D/NA/D/24/4.37/ | ||||
M1252 | NOA | NM_173628.4c.11,920 C > A;p.(Pro3974Thr) | Het | D/P/D/20.6/4.23/ | ||
NM_173628.4:c.10,331 C > Al; p.(Ala3444Asp) | Het | NA/P/D/25.6/5.11/ | ||||
M1824 | NOA | aNM_173628.4:c.5278G > T;p.(Asp1760Tyr) | Het | NA/NA/D/34/4.65/ | ||
aNM_173628.4:c.3601 C > T;p.(Arg1201Trp) | Het | D/NA/D/27.4/-2.85/ | ||||
DNAH6 | M1705 | Oliogasthenozoospermia | NM_001370.2:c.8888G > A;p.(Arg2963His) | Het | D/D/D/32/5.58/ | Tu et al., 2019 [16] |
NM_001370.2:c.10025G > A;p.(Arg3342His) | Het | D/D/D/28.9/5.86/ | ||||
DNAH7 | M807 | Oliogasthenozoospermia | NM_018897.3:c.11,018 A > G;p.(Tyr3673Cys) | Het | D/P/D/24.4/4.98/ | Wei et al., 2021 [17] |
NM_018897.3:c.7264 C > A;p.(Pro2422Thr) | Het | D/D/D/26.8/5.34/ | ||||
DNAH8 | M1237 | Oliogasthenozoospermia | aNM_001206927.2:c.6565 A > G;p.(Met2189Val) | Het | D/D/D/26.1/5.87/ | Liu et al., 2020 [18] |
NM_001206927.2:c.12,496 C > T;p.(Arg4166X) | Het | NA/NA/A/48/3.19/ | ||||
M1761 | Asthenozoospermia | NM_001206927.2:c.391–2 A > C | Het | NA/NA/D/24.6/5.66/ | ||
NM_001206927.2:c.9964-1G > A | Het | NA/NA/D/25/5.37/ | ||||
DNAH9 | M1470 | NOA | NM_004662.2:c.112 C > T;p.(Arg38Trp) | Het | D/D/D/27.5/3.17/ | Tang et al., 2021 [19] |
NM_004662.2:c.1016 A > T;p.(His339Leu) | Het | D/D/D/24.3/5.19/ | ||||
FSIP2 | M1596 | Oliogasthenozoospermia | NM_173651.4:c.17G > A;p.(Gly6Asp) | Het | D/NA/N/19.9/3.66/ | Martinez et al.,2018 [20] |
aNM_173651.4:c.3365 C > G;p.(Ser1122Cys) | Het | D/NA/N/20.6/3.44/ | ||||
M1793 | Oliogasthenozoospermia | NM_173651.4:c.1347 + 1G > A | Het | NA/NA/N/14.1/2.52/ | ||
NM_173651.4:c.5235del; p.(Glu1747del) | Het | NA/NA/NA/NA/NA/ | ||||
MSH4 | M1295 | NOA | NM_002440.4:c.2107 + 5G > A | Hom | NA/NA/NA/NA/NA/ | Wyrwoll et al.,2021 [21] |
SLC9C1 | M1497 | Asthenozoospermia | NM_183061.3:c.1711 C > T;p.(Gln571X) | Het | NA/NA/A/34/1.12/ | Cavarocchi et al., 2021 [22] |
NM_183061.3:c.1012_1015del; p.(Ile338Phe fs*2) | Het | NA/NA/NA/NA/NA/ | ||||
TDRD9 | M852 | NOA | NM_153046.3:c.2737T > C;p.(Phe913Leu) | Hom | D/D/D/32/5.09/ | Arafat et al., 2017 [23] |
TTC21A | M1717 | Asthenozoospermia | NM_001105513.3:c.1427T > A;p.(Leu476Gln) | Het | D/D/D/27.2/4.74/ | Liu et al., 2019 [24] |
NM_001105513.3:c.2822–2 A > C | Het | NA/NA/D/23.4/4.79/ | ||||
WNK3 | M858 | Oliogasthenozoospermia | NM_001002838.4:c.2746 C > T;p.(Arg916Trp) | Hemi | D/P/N/24.8/5.02/ | Fakhro et al., 2018 [25] |
CFAP54 | M827 | Oliogasthenozoospermia | NM_001306084.2:c.1540–4 C > T | Het | NA/NA/NA/NA/NA | Tian et al., 2023 [26] |
NM_001306084.2:c.8642_8643del; p.(Leu2882Phefs*7) | Het | NA/NA/NA/NA/NA |