Table 2 Genetic mutation of annulus protein-coding genes and associated phenotype of the spermatozoa in humans
From: The annulus: composition, role and importance in sperm flagellum biogenesis and male fertility
Gene | Publication | Mutation | Results of semen analysis | Structural phenotype of spermatozoa | ART outcome |
|---|---|---|---|---|---|
SEPT4 | [57] | 2 homozygotes patients c.A721T, p.R241* c.C205T, p.R69* | Asthenoteratozoospermia | Complete loss of annulus, thin midpiece, mitochondria were abnormal and desorganized. 20% bent sperm | Trial and successful ICSI for one couple |
SLC26A8 | [56] | 2 heterozygotes bi-allelic patients (c.212G > T,p.Arg71Leu; c.290 T > C,p.Leu97Pro) (c.1664delT,p.Ile555Thrfs*11; c.290 T > C,p.Leu97Pro) | Asthenozoospermia | Complete loss of annulus, thin midpiece, very few mitochondria | Successful ICSI for both couples |
SLC26A8 | [54] | 3 heterozygotes patients c.1570_1571del, p.A524* c.2191G > A, p.V731I c.306del, p.G103Afs*9 | Asthenoteratozoospermia | No loss of SLC26A8 protein, no TEM of the annulus | No information |
SLC26A8 | [53] | 3 heterozygotes patients c.260G > A, p.Arg87Gln c.2434G > A, p.Glu812Lys c.2860C > T, p.Arg954Cys | Asthenozoospermia | Decrease in SLC26A8 protein, impaired association with CFTR, no TEM of the annulus | No information |
SEPT12 | 2 heterozygotes patients c.266C > T, p.Thr89Met (T89M) c.589G > A, p.Asp197Asn (D197N) | T89M Asthenoteratozoospermia D197N Oligoasthenozoospermia | Complete loss of annulus for D197N and bent flagella | No information | |
SEPT12 | [49] | Numerous SNP (cohort of 160 patients) Focus on c.474 A/A genotype, create a novel splice donnor site resulted in truncated protein | 9 teratozoospermia 5 azoospermia | Bent tail, de-condensed nucleus, non-penetrant variant | No information |
SEPT12 | [65] | Some SNP were higher in SCOS patients cohort (100 patients) | Azoospermia | (Irrelevant) | No information |