MAATS1 affected individuals | Semen parameters | |||||||||||||||||
Individual |
MAATS1
variant (NM_033364.3) | Sperm volume (mL) | Sperm concentration (106/mL) | Total motility 1 hour | Vitality | Normal spermatozoa | Absent flagella | Short flagella | Coiled flagella | Bent flagella | Flagella of irregular calibre | Tapered head | Thin head | Microcephalic | Macrocephalic | Multiple heads | Abnormal base | Abnormal acrosomal region |
MAATS1_1 | c.682+1G>A | 3 | 5.2 | 0 | 50 | 0 | 34 | 44 | 22 | NA | 46 | 16 | 8 | 0 | 0 | 2 | 8 | 40 |
MAATS1_2 | c.682+1G>A | 3.6 | 37.5 | 5 | 63 | 0 | 18 | 24 | 16 | 0 | 56 | 32 | 20 | 6 | 0 | 0 | 24 | 94 |
MAATS1_3 | c.124G>C; p.(Asp42His) | 3.8 | 41.1 | 5 | 70 | 12 | 13 | 12 | 9 | 21 | 0 | 1 | 7 | 0 | 0 | 0 | 53 | 45 |
MAATS1_4 | c.124G>C; p.(Asp42His) | 1.7 | 15 | 1 | 35 | 0 | 30 | 42 | 13 | 6 | 21 | 0 | 6 | 3 | 0 | 0 | 82 | 38 |
MAATS1_5 | c.124G>C; p.(Asp42His) | 2.5 | 7.2 | 10 | 21 | 0 | 24 | 30 | 10 | 0 | 40 | 10 | 0 | 10 | 2 | 0 | 10 | 90 |
MAATS1_6 | c c.124G>C; p.(Asp42His) | 1 | 8.25 | 0 | 20 | 0 | >10 | >10 | >10 | NA | >10 | NA | NA | NA | NA | NA | NA | NA |
Reference limits* | 1.5 (1.4 to 1.7) | 15 (12 to 16) | 40 (38 to 42) | 58 (55 to 63) | 23 (20 to 26) | 5 (4 to 6) | 1 (0 to 2) | 17 (15 to 19) | 13 (11 to 15) | 2 (1 to 3) | 3 (2 to 4) | 14 (12 to 16) | 7 (5 to 9) | 1 (0 to 2) | 2 (1 to 3) | 42 (39 to 45) | 60 (57 to 63) |
Values are percentages unless specified otherwise.
*Reference limits (5th centiles and their 95% CIs) according to WHO.18
MMAF, multiple morphological abnormalities of the flagella; NA, not available.