Table 2 Variants of candidate genes for male infertility
From: Whole exome sequencing analysis of 167 men with primary infertility
Gene | Patients | Semen characteristics | Variation | Zygosity | SIFT/PolyPhen/MutationTaster/CADD/GERP | Phenotypes of KO mice (or patients) from literature |
|---|---|---|---|---|---|---|
CHTF18 | M1286 | NOA | NM_022092.3:c.1439G > A;p.(Gly480Glu) | Het | T/P/N/1.258/1.41/ | Oligospermia, subfertility, abnormal morphology of spermatogenic cells [27] |
NM_022092.3: c.1901G > C;p.(Arg634Pro) | Het | D/D/N/23.7/0.644/ | ||||
DDB1 | M1809 | NOA | NM_001923.3:c.1550 A > G;p.(Tyr517Cys) | Het | T/D/D/23.4/5.67 | Decreased Sertoli cell proliferation [28] |
NM_001923.3:c.762 + 6 C > T | Het | NA/NA/NA/NA/NA | ||||
DNAH12 | M842 | Asthenozoospermia | NM_001366028.2c.6286 C > T;p.(Gln2096X) | Hom | NA/NA/A/38/1.27/ | Patients with multiple morphological abnormalities of the sperm flagella (MMAF) [29, 30] and one patient with sperm motility disorder [31] |
M867 | NOA | NM_001366028.2:c.9675-1G > A | Het | NA/NA/D/26.9/5.78/ | ||
NM_001366028.2:c.6021–3 A > G | Het | NA/NA/NA/NA/NA/ | ||||
M889 | OAT | NM_001366028.2:c.10763G > A;p.(Arg3588His) | Het | D/P/D/35/5.34/ | ||
NM_001366028.2:c.898–5 C > T | Het | NA/NA/NA/NA/NA/ | ||||
FANCB | M1782 | Teratozoospermia | NM_152633.3:c.2165G > C;p.(Arg722Thr) | Hemi | D/D/D/26.3/5.34 | Infertility, reduction of undifferentiated spermatogonia [32] |
GALNT3 | M865 | Oliogasthenozoosper-mia | NM_004482.4:c.1696 C > T;p.(Gln566Ter) | Hom | NA/NA/A/35/1.61 | Infertility, oligoasthenoteratozoospermia [33] |
MAGEC1 | M1528 | Oligoszoopermia | NM_005462.5:c.392 C > T;p.(Pro131Leu) | Hemi | D/P/D/23/NA/ |  |
M898, M1600 | Asthenozoospermia | NM_005462.5:c.1754_1755del; p.(Gln585Argfs*61) | Hemi | NA/NA/NA/NA/NA | ||
OPHN1 | M875 | Oliogasthenozoosper-mia | NM_002547.3:c.487-5_487-3del | Hemi | NA/NA/NA/NA/NA | No reproduction and lack of motility of most sperm (https://www.informatics.jax.org/downloads/Reference_texts/J123336.pdf) |
RBMXL3 | M1222 | Asthenozoospermia | NM_001145346.2:c.101T > A;p.(Ile34Asn) | Hemi | D/D/N/23.3/0.69 | Candidate gene for NOA [7] |
M839 | Asthenozoospermia | NM_001145346.2:c.548 C > T;p.(Pro183Leu) | Hemi | T/D/N/10.97/1.29 | ||
SCML2 | M1204, M1862 | Asthenozoospermia | NM_006089.3:c.1244 C > G;p.(Pro415Arg) | Hemi | D/P/N/23.2/4.47 | ICSI using testicular sperm rescued infertility [34] |
UPF3A | M847 | Asthenozoospermia | NM_001353644.2:c.187dupA; p.(Glu66Argfs*4) | Hom | NA/NA/NA/NA/NA | Reduction in sperm count, a defect in spermatocyte progression [35] |
ZMYM3 | M1562. | Oliogasthenozoosper-mia | NM_001171162.1:c.3766 + 4 C > T | Hemi | NA/NA/NA/NA/NA | Infertility, meiotic division arrest [36] |
M1765 | NOA | NM_001171162.1:c.3770 C > T;p.(Thr1257Met) | Hemi | T/D/D/8.703/3.04 | ||
ZNF185 | M1569 | NOA | NM_007150.3:c.1981T > C;p.(Cys661Arg) | Hemi | D/D/D/26.2/5.25/ |  |
M1799 | NOA | NM_007150.3:c.1924 A > G;p.(Ile642Val) | Hemi | D/D/D/25.9/4.42/ | ||
M1813 | NOA | NM_007150.3:c.661G > A;p.(Val221Met) | Hemi | T/D/N/26.7/3.83/ |