Table 2 Clinical information of fathers with MECP2 mosaicism
R831F | R846F | R848F | R931F | R951F | R973F | R999F | R1002F | R1012F | ||
|---|---|---|---|---|---|---|---|---|---|---|
Age (years) | 26 | 29 | 35 | 30 | 33 | 30 | 36 | 37 | 35 | |
Nucleotide change | c.502C > T | c.502C > T | c.806delG | c.502C > T | c.473C > T | c.473C > T | c.880C > T | c.397C > T | c.397C > T | |
Amino acid change | p.R168* | p.R168* | p.G269fs | p.R168* | p.T158M | p.T158M | p.R294* | p.R133C | p.R133C | |
MAF in sperm | 0.67% | 0.11% | 7.55% | 1.40% | 0.13% | 0.09% | 0.10% | 0.27% | 0.05% | |
MAF in blood | 0 | 0 | 0.28% | 0 | 0 | 0 | 0 | 0 | 0 | |
Routine semen test | NA | NA | NA | |||||||
Semen volume (mL) | 3 | - | 3 | 1 | 2 | 3.4 | - | 3.2 | - | |
Sperm density (million/mL) | 6.82 | - | 27.89 | 115.55 | 78 | 57 | - | 13.61 | - | |
Sperm motility | a | 10.34% | - | 0 | 52.19% | 12% | 11% | - | 12.38% | - |
b | 3.45% | - | 26.09% | 18.08% | 31% | 24% | - | 7.92% | - | |
c | 3.45% | - | 30.44% | 12.83% | 10% | 11% | - | 9.9% | - | |
d | 82.76% | - | 43.48% | 16.91% | 47% | 54% | - | 69.8% | - | |
(a + b)*(Density)*(volume) (million/mL) | 2.05 | - | 21.84 | 81.2 | 67.08 | 67.83 | - | 8.84 | - | |