Table 3: Statistics of male NGS panel results.
Mutant gene |
Mutation frequency |
Related diseases |
Genetic model |
DNAH1 |
13 |
Primary ciliary dyskinesia, Spermatogenic failure |
AR |
DNAH9 |
5 |
Primary ciliary dyskinesia |
AR |
NME8 |
4 |
Primary ciliary dyskinesia |
AR |
DNAH5 |
1 |
Primary ciliary dyskinesia |
AR |
CCDC 40 |
1 |
Primary ciliary dyskinesia |
AR |
DNAI2 |
1 |
Primary ciliary dyskinesia |
AR |
FSIP2 |
4 |
Spermatogenesis disorder |
AR |
TEX15 |
4 |
Spermatogenesis disorder |
AR |
AK7 |
2 |
Spermatogenesis disorder |
AR |
USP9Y |
1 |
Spermatogenesis disorder |
YL |
CFAP43 |
1 |
Spermatogenesis disorder |
AR |
SOHLH1 |
1 |
Spermatogenesis disorder |
AD |
KLHL10 |
1 |
Spermatogenesis disorder |
AD |
SUN5 |
1 |
Spermatogenesis disorder |
AR |
KAL1 |
1 |
Hypogonadotropic hypogonadism |
XLR |
TACR3 |
1 |
Hypogonadotropic hypogonadism |
AR |
POR |
1 |
Cytochrome P450 oxidoreductase deficiency |
AR |
DPY19L2 |
2 |
Round-headed spermatozoa, Spermatogenesis disorder |
AR |
AZFc deletion |
1 |
Azoospermia or oligospermia |
AD: Autosomal Dominance; AR: Autosomal Recessive; XLD: X Linked Dominance; XLR: X-Linked Recessive; YL: Y Linked