Table 2.
Semen characteristics and sperm morphology of the CFAP69-affected males identified in this study and the previous literatures
| Individual | This study | Dong et al. 2018 [13] | He et al. 2019 [14] | Reference Value# | |||
|---|---|---|---|---|---|---|---|
| Control | L015 proband | CFAP69_1 | CFAP69_2 | A001 proband | A006 proband | ||
| Age (years) | 29 | 36 | 42 | 51 | N/A | N/A | - |
| cDNA change | - | c.2061dup | c.860+1G>A | c.763C>T | c.1069_1070insAC | c.647G>A | - |
| Protein change | - | p.Pro688Thrfs*5 | p.Gln255* | p.Leu357Hisfs*11 | p.Trp216* | - | |
| Allelic status | - | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | - |
| Semen parameters | |||||||
| Semen volume (mL) | 3.4 ± 0.4 | 2.5 ± 0.3 | 5 | 4 | 3.0 | 4.2 | 1.5 (1.4–1.7) |
| Sperm concentration (106/mL) | 27.7 ± 6.7 | 29.8 ± 7.4 | 4 | 6 | 110.7 | 24.2 | 15 (12–16) |
| Total sperm count (106/ejaculate) | 95.3 ± 25.7 | 74.0 ± 24.7 | 20 | 24 | 332.1 | 101.6 | 39 (33–46) |
| Sperm motility (%) | 68.3 ± 9.5 | 5.3 ± 3.8*** | 1 | 10 | 4.5 | 0.7 | 40 (38–42) |
| Progressive motility (%) | 63.0 ± 12.8 | 1.0 ± 1.2*** | N/A | N/A | 0.8 | 0.4 | 32 (31–34) |
| Immobility (%) | 31.7 ± 9.5 | 94.8 ± 3.8*** | 99 | 90 | 95.5 | 99.3 | - |
| Normal sperm morphology (%) | 61.3 ± 7.1 | 3.0 ± 1.0** | 1 | 12 | 3 | 5.0 | 4 (3–4) |
| Morphology of sperm flagella | |||||||
| Normal flagella (%) | 81.0 ± 0.6 | 30.1 ± 0.8*** | 18 | 56 | 14 | 2.0 | - |
| Absent flagella (%) | 2.9 ± 0.1 | 10.6 ± 0.2*** | 1 | 12 | 13 | 10.0 | 5 (4–6) |
| Short flagella (%) | 1.8 ± 0.2 | 22.0 ± 0.7*** | 79 | 13 | 28 | 47.5 | 1 (0–2) |
| Coiled flagella (%) | 6.4 ± 0.8 | 20.5 ± 0.5*** | 1 | 7 | 35 | 32.5 | 17 (15–19) |
| Bent flagella (%) | 5.1 ± 1.3 | 6.1 ± 1.1ns | 0 | 5 | 7.5 | 5.5 | 13 (11–15) |
| Irregular-caliber (%) | 2.8 ± 0.2 | 9.9 ± 0.3*** | 1 | 7 | 2.5 | 2.5 | 2 (1–3) |
| Morphology of sperm head | |||||||
| Tapered head (%) | 2.5 ± 1.8 | 13.2 ± 0.7*** | 20 | 1 | 18.0 | 7.5 | 3 (2–4) |
| Thin head (%) | 3.2 ± 1.2 | 5.2 ± 0.2ns | 14 | 37 | N/A | N/A | 14 (12–16) |
| Abnormal acrosomal region (%) | 9.1 ± 1.8 | 37.5 ± 0.5*** | 64 | 70 | 29.5 | 28.5 | 60 (57–63) |
For the L015 proband, four independent experiments were performed. Data are presented as means ± SD. *p < 0.05, **p < 0.01, ***p < 0.001, ns—not significant; Student’s t-test. For the previous reported four cases, the data were obtained from the literatures [13, 14]. N/A—not available. #Reference values (5th centiles and their 95% confidence intervals) were according to the WHO (2010) manual criteria and the distribution range of normal morphology of sperm flagella observed in 926 fertile individuals [20]. The statistical approach is according to the previous classification systems [21]