Table 3 Clinical information of control males with MECP2 mosaicism
C8 | C11 | C12 | C14 | C15 | C16 | C18 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Age (years) | 28 | 36 | 33 | 32 | 29 | 38 | 29 | ||||
Nucleotide change | c.316C > T | c.473C > T | c.763C > T | c.916C > T | c.473C > T | c.473C > T | c.473C > T | c.916C > T | c.473C > T | c.473C > T | |
Amino acid change | p.R106W | p.T158M | p.R255* | p.R306C | p.T158M | p.T158M | p.T158M | p.R306C | p.T158M | p.T158M | |
MAF in sperm | 0.11% | 0.10% | 0.05% | 0.05% | 0.18% | 0.10% | 0.10% | 0.05% | 0.10% | 0.12% | |
MAF in blood | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Routine semen test | |||||||||||
Semen volume (mL) | 2 | 1.3 | 2.3 | 3.1 | 2.6 | 2.4 | 1.1 | ||||
Sperm density (million/mL) | 75 | 67 | 47 | 34 | 68 | 75 | 13 | ||||
Sperm motility | a | 13% | 8% | 6% | 8% | 13% | 10% | 1% | |||
b | 23% | 18% | 18% | 14% | 32% | 18% | 10% | ||||
c | 9% | 10% | 9% | 11% | 10% | 11% | 8% | ||||
d | 55% | 64% | 67% | 67% | 45% | 61% | 81% | ||||
(a + b)*(Density)*(volume) (million/mL) | 54 | 22.65 | 25.94 | 23.19 | 79.56 | 50.4 | 0.20 | ||||