Table 1.
Deleterious variants detected in patients with non-obstructive azoospermia and related clinical phenotypes
| Individual | NOA16 | NOA50 | NOA51 | NOA22 | NOA25 | NOA42 | NOA39 | NOA49 |
|---|---|---|---|---|---|---|---|---|
| Gene | FANCA | FANCA | SYCE1 | DMRT1 | DMRT1 | PLK4 | TEX11 | TEX11 |
| Inheritance pattern | AR | AR | AR | AD | AD | AD | X-linked | X-linked |
| RefSeq accession number | NM_000135 | NM_000135 | NM_001143763 | NM_021951 | NM_021951 | NM_001190799 | NM_031276 | NM_031276 |
| Age | 27 | 27 | 31 | 27 | 31 | 29 | 32 | 25 |
| Secondary sexual characteristics | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
| testicular volume(Left/Right, ml) | 8/8 | 8/8 | 15/15 | 10/10 | 10/10 | 12/12 | 12/12 | 10/10 |
| Somatic karyotype | 46,XY | 46,XY | 46,XY | 46,XY | 46,XY | 46,XY | 46,XY | 46,XY |
| Y Chromosome microdeletions | No | No | No | No | No | No | No | No |
| Follicle-stimulating hormone (IU/L) | 23.87 | 23.87 | 3.85 | 16.32 | 26.54 | 29.24 | 8.44 | 4.02 |
| Luteinizing hormone (IU/L) | 6.1 | 6.10 | 0.41 | 6.44 | 11.35 | 7.05 | 6.33 | 5.33 |
| Testosterone (nmol/L) | 14.03 | 14.03 | 31.14 | 17.95 | 7.07 | 10.75 | 10.75 | 13.34 |
| Estradiol (pmol/L) | NA | 90 | 372 | 241 | 23 | 73 | 97 | 132 |
| Prolactin (ng/ml) | NA | 8.26 | 14.6 | 11.88 | 10.37 | 8.11 | 8.92 | 10.24 |
| Testis histology | SCOS | ND | MA | SCOS | SCOS | SCOS | Hypospermatogenesis | MA |
| Hom/Het | Hom | Het/ Het | Hom | Het | Het | Het | Hemi | Hemi |
| cDNA mutation | c.3263C > T | c.3263C > T/ c.1729C > G | c.689_690del | c.425C > T | c.340G > A | c.2785A > G | c.466A > G | c.559_560del |
| Mutation type | Missence | Missence/ Missense | Frameshift | Missense | Missense | Missense | Missense | Frameshift |
| Protein alteration | p.S1088F | p.S1088F/ p.P577A | p.F230fs | p.A142V | p.V114M | p.M929V | p.M156V | p.M187fs |
| 1KGP | 0.0218 | 0.0218/ 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| EXAC_EAS | 0.0235 | 0.0235/ 0 | 0 | 0 | 0 | 0 | 0.0039 | 0 |
| gnomAD_EAS | 0.0265 | 0.0265/ 0 | 0.0001 | 0 | 0 | 0 | 0.0034 | 0 |
| SIFT | D | D/ D | NA | T | D | D | T | NA |
| PolyPhen-2 | P | P/ D | NA | D | D | P | B | NA |
| MutationTaster | N | N/ D | NA | D | D | D | N | NA |
| CADD | 21.8 | 21.8/ 23.9 | NA | 22.2 | 33 | 23.9 | 22.2 | NA |
| HGMD | NA | NA/ NA | NA | NA | NA | NA | D | NA |
| Validation in patient | Yes | Yes/ Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Mother/Father genotype | Het/Het | ND/ ND | ND/Het | ND | ND | ND | Het/WT | ND |
AR autosomal recessive, AD autosomal dominant, 1KGP 1000 Genomes Project, ExAc_EAS the data of East Asian in Exome Aggregation Consortium, gnomAD_EAS the data of East Asian in the Genome Aggregation Database, D Damaging, T Tolerant, P Possibly Damaging, B Benign, N Polymorphism, ND Not Detect, SCOS Sertoli cell only syndrome, MA maturation arrest