Table 1.
Genetic mutations discovered in infertile men with ASS
| Gene name | Gene mutation | Mutation type | Protein variant | Protein domain | ASS subtype | Study |
|---|---|---|---|---|---|---|
| SUN5 (NM_080675.4) | c.824C>T | Missense | p.Thr275Met | SUN domain | II | Zhu et al.8 |
| c.1006C>T | Missense | p.Arg356Cys | SUN domain | Zhu et al.8 | ||
| c.485T>A | Missense | p.Met162Lys | Coiled-coil domain | Zhu et al.8 | ||
| c.381delA | Frameshift | p.Val128Serfs*7 | - | Zhu et al.,8 Sha et al.,25 Zhang et al.29 | ||
| c.781G>A | Missense | p.Val261Met | SUN domain | Zhu et al.8 | ||
| c.216G>A | Nonsense | p.Trp72* | N-terminus | Zhu et al.8 | ||
| c.1043A>T | Missense | p.Asn348Ile | SUN domain | Zhu et al.8 | ||
| c.425+1G>A | Splicing mutation | - | - | Zhu et al.8 | ||
| c.851C>G | Nonsense | p.Ser284* | SUN domain | Zhu et al.8 | ||
| c.340G>A | Splicing mutation | p.Gly114Arg | Transmembrane domain | Zhu et al.8 | ||
| GRCh38-chr20:32995761_32990672delinsTGGT | Frameshift | p.Leu143Serfs*30 | - | Elkhatib et al.23 | ||
| c.475C>T | Nonsense | p.Arg159* | Coiled-coil domain | Shang et al.26 | ||
| c.829C>T | Nonsense | p.Gln277* | SUN domain | Fang et al.24 | ||
| c.1067G>A | Missense | p.Arg356His | SUN domain | Fang et al.24 | ||
| c.211+1 insGT | Frameshift | p.Ser71Cysfs11* | N-terminus | Fang et al.24 | ||
| c.772C>T | Missense | p.Arg258Cys | SUN domain | Liu et al.27 | ||
| c.211+1_211+2dup | Frameshift | p.Ser71Cysfs11* | N-terminus | Cazin et al.28 | ||
| c.675C>A | Nonsense | p.Y225* | SUN domain | Zhang et al.29 | ||
| c.88C>T | Nonsense | p.R30* | N-terminus | Zhang et al.29 | ||
| PMFBP1 (NM_031293.3) | c.1462C>T | Nonsense | p.Gln488* | Smc domain | II | Zhu et al.31 |
| c.2404C>T | Nonsense | p.Gln802* | Smc domain | Zhu et al.31 | ||
| c.2725C>T | Nonsense | p.Arg909* | C-terminus | Zhu et al.31 | ||
| c.2092delG | Frameshift | p.Ala698Profs*7 | Smc domain | Zhu et al.31 | ||
| c.2561_2562del | Frameshift | p.Lys854Argfs*5 | Smc domain | Sha et al.32 | ||
| c.327T>A | Nonsense | p.Tyr109* | N-terminus | Sha et al.32 | ||
| c.361C>T | Nonsense | p.Gln121* | N-terminus | Liu et al.27 | ||
| c.2089-1G>T | Frameshift | p.Ile687Leufs*257 | Smc domain | Liu et al.27 | ||
| c.301A>C | Missense | p.Thr101Pro | N-terminus | Lu et al.33 | ||
| TSGA10 (NM_025244.4) | c.211delG | Frameshift | p.Ala71Hisfs*12 | Phosphodiesterase | III | Sha et al.35 |
| c.1739A>C | Missense | p.Gln580Pro | COG4372 domain | Liu et al.27 | ||
| c.545dupT | Frameshift | p.Ala183Serfs*10 | Phosphodiesterase | Ye et al.36 | ||
| BRDT (NM_207189.4) | c.G2783A | Missense | p.Gly928Asp | P-TEFb binding | III | Li et al.38 |
| DNAH6 (NM_001370.2) | c.2454A>T | Missense | p.Glu818Asp | - | Unknown | Li et al.39 |
| c.7706G>A | Missense | p.Arg2569His | - | Li et al.39 | ||
| CEP112 (NM_001199165.4) | c.496C>T | Nonsense | p.Arg166* | - | Unknown | Sha et al.43 |
| c.2074C>T | Missense | p.Arg692Trp | Coiled-coil domain | Sha et al.43 | ||
| c.2104C>T | Missense | p.Arg702Cys | Coiled-coil domain | Sha et al.43 | ||
| HOOK1 (NM_015888.6) | c.848T>C | Missense | p.Gln286Arg | Central coiled-coil domain | II | Chen et al.42 |
ASS: acephalic spermatozoa syndrome; SUN5: Sad1 and UNC84 domain containing 5; PMFBP1: polyamine-modulated factor 1 binding protein 1; TSGA10: testis-specific gene antigen 10; BRDT: bromodomain testis-specific protein; DNAH6: dynein axonemal heavy chain 6; CEP112: centrosomal protein 112; HOOK1: hook microtubule tethering protein 1; -: unknown domain