Table 1.
Sperm morphology and kinetics of fathers with MECP2 mosaicism
| R831F | R846F | R848F | R873F | R931F | ||
|---|---|---|---|---|---|---|
| DNA Variation | c.502C>T | c.502C>T | c.806delG | c.880C>T | c.502C>T | |
| AA change | p.Arg168Ter | p.Arg168Ter | p.Gly269fsTer | p.Arg294Ter | p.Arg168Ter | |
| MAFs | 0.67% | 0.11% | 7.55% | 0.03% | 1.40% | |
| Other samples | Negative | Negative | 0.43% in saliva, 0.28% in blood | Negative | Negative | |
| Semen volume (mL) (ref: ≥2 mL) | 3 | - | 3 | 3 | 1 | |
| Sperm density (million/mL) (ref: ≥ 20 million/mL) | 3.29 | - | 27.89 | 82 | 115.55 | |
| Sperm motility (ref: a ≥ 25% or a + b ≥ 50%) | a | 10.34% | - | 0% | 11% | 52.19% |
| b | 3.45% | - | 26.09% | 31% | 18.08% | |
| c | 3.45% | - | 30.44% | 10% | 12.83% | |
| d | 82.76% | - | 43.48% | 48% | 16.91% | |
| Teratospermia (ref: normal sperm≥30%) | Normal | 0% | - | 13.04% | 8.29% | Unknown |
| Head deformity | 100% | - | 86.96% | 91.71% | Unknown | |
| Neck deformity | 0% | - | 0% | 14.63% | Unknown | |
| Tail deformity | 0% | - | 0% | 1.95% | Unknown | |
| Other deformity | 0% | - | 0% | 0% | Unknown | |
| (a + b)*(Density)*(volume) (ref: ref: ≥ 20 million/mL) | 1.36 | - | 21.83 | 103.32 | 81.20 | |
| Conclusion | Asthenospermia | NA | Close to asthenospermia | Normal | Normal | |
| Number of offspring | 2 | 1 | 1 | 1 | 1 | |
The diagnostic criteria for asthenospermia were as follows: total number of sperm with forward motility less than 20 million/mL or total proportion of sperm with normal morphology lower than 4%. Abnormal indexes are marked in red.
AA amino acid, MAF multiple allele fraction, NA not available, Ref reference range.