Table 2. Pathogenic or likely pathogenic variants in genes identified in patients with non-obstructive azoospermia and their clinical characteristics.
| Gene symbol (OMIM number) | Patient code | Notes | FSH (IU/l) | Testis histology | Left/right testicular volume (mL) | Nucleotide change | Amino acid change | rs ID | Minor allele frequency (%) | In silico prediction |
|---|---|---|---|---|---|---|---|---|---|---|
| DNAH1 (603332) | 160585017 | Cryptorchidism | 12.9 | SCOS | 8.74/9 | NM_015512.5:c.6058G>T | NP_056327.4: pGlu2020* | - | - | Pathogenic |
| NANOS1 (608226) | 141879319 | Cryptorchidism | 11.3 | Mixed atrophy | Smaller than normal | NM_199461.4:c.262del | NP_955631.1: p.His88Thrfs*64 | rs1564744521 | - | Likely pathogenic |
| PLCZ1 (608075) | 265952375 | Idiopathic | N | Hypospermatogenesis | N | NM_033123.4:c.20del | NP_149114.2: p.Leu7Cysfs*15 | - | - | Pathogenic |
| ZPBP (608498) | 119526696 | Idiopathic | 11.48 | Hypospermatogenesis | NA | NM_007009.3:c.127+1G>A | NA | - | - | Pathogenic |
| 122836561 | Idiopathic | 10.1 | Mixed atrophy (left) Maturation arrest (right) |
N | NM_007009.3:c.4del | NP_008940.2: p.Glu2ArgfsTer54 | - | - | Pathogenic | |
| ZMYND15 (614312) | 163680875 | Idiopathic | N | Hypospermatogenesis | NA | NM_001136046.3: c.1260_1261del | NP_001129518.1: p.Gly422GlnfsTer79 | rs748488242 | 0.01 | Pathogenic |
| NM_001136046.3:c.1263del | NP_001129518.1: p. Gly422Alafs*25 | rs758076451 | 0.08 | Likely pathogenic |
OMIM: Online Mendelian Inheritance in Man, FSH: follicle stimulating hormone, SCOS: Sertoli cell-only syndrome, N: normal, NA: not assessed, -: not available.