Table 1. Spermatogenic failure genes sequenced in this study.
| Gene | Inheritance | OMIM number | OMIM phenotype | Mutation detection frequency | HGNC gene number |
|---|---|---|---|---|---|
| AURKC (STK13) | AR | 603495 | SPGF5 | 82.8% (72/87) | Aurora kinase C |
| BRDT | AR | 602144 | SPGF21 | 1 consanguineous family | Bromodomain testis associated |
| CATSPER1 | AR | 606339 | SPGF7 | Two 4-generation consanguineous families | Cation channel, sperm associated 1 |
| CFAP43 | AR | 617558 | SPGF19 | 13% (4/30) | Cilia and flagella associated protein 43 |
| CFAP44 | AR | 617559 | SPGF20 | - | Cilia and flagella associated protein 43 |
| DNAH1 | AR | 603332 | SPGF18 | 28%–44% | Dynein axonemal heavy chain 1 |
| DPY19L2 | AR | 613893 | SPGF9 | 66.7% (36/54) | Dpy-19-like 2 (C. elegans) |
| HSF2 | AD | 140581 | - | <1% (1/766) | Heat shock transcription factor 2 |
| KLHL10 | AD | 608778 | SPGF11 | 1.3% (7/556) | Kelch-like family member 10 |
| MEIOB | AR | 617670 | SPGF22 | 1 consanguineous family | Meiosis specific with OB domains |
| NANOS1 | AD | 608226 | SPGF12 | 2.6% (5/195) | Nanos homolog 1 (Drosophila) |
| NR5A1 | AR | 184757 | SPGF8 | 2% (7/315) | Nuclear receptor subfamily 5, group A, member 1 |
| PICK1 | - | 605926 | - | - | Protein interacting with PRKCA1 |
| PLCZ1 | AR | 608075 | SPGF17 | 2 family | Phospholipase C zeta 1 |
| PLK4 | AD | 605031 | - | 1.2% (1/81) | Polo like kinase 4 |
| RHOXF2 | - | 300447 | - | <1% (1/250) | Rhox homeobox family member 2 |
| SEPT12 | AD | 611562 | SPGF10 | 1.3% (2/160) | Septin 12 |
| SLC26A8 | AD | 608480 | SPGF3 | 2% (3/145) | Solute carrier family 26 (anion exchanger) member 8 |
| SOHLH1 | - | 610224 | - | 2% (2/100) | Spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
| SPATA16 | AR | 609856 | SPGF6 | 1 consanguineous family | Spermatogenesis associated 16 |
| SYCE1 | AR | 611486 | SPGF15 | 1 consanguineous family | Synaptonemal complex central element protein 1 |
| SYCP3 | AD | 604759 | SPGF4 | 10.5% (2/19) | Synaptonemal complex protein 3 |
| SUN5 | AR | 613942 | SPGF16 | 47% (8/17) | Sad1 and UNC84 domain containing 5 |
| TAF4B | AR | 601689 | SPGF13 | 1 consanguineous family | TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor |
| TEX11 | XLR | 300311 | SPGF, X-linked, 2 | 1-2.4% (7/289) azoospermia; 15% azoospermia with meiotic arrest | Testis expressed 11 |
| TEX15 | AR | 605795 | - | 2 family; 1 proband | Testis expressed 15, meiosis and synapsis associated |
| USP9Y | YL | 400005 | SPGF, Y-linked, 2 | 3 proband (4-db DEL; DEL incl. entire gene) | Ubiquitin specific peptidase 9, Y-linked |
| ZMYND15 | AR | 614312 | SPGF14 | 1 consanguineous family | Zinc finger, MYND-type containing 15 |
| ZPBP | - | 608498 | - | 2% (7/381) | Zona pellucida-binding protein |
OMIM: Online Mendelian Inheritance in Man, HCNC: HUGO Gene Nomenclature Committee, AR: autosomal recessive, AD: autosomal dominant, SPGF: spermatogenic failure, -: not available.