Table 1

Detailed semen parameters for the six individuals with MMAF harbouring homozygous MAATS1 variant

MAATS1 affected individualsSemen parameters
Individual MAATS1
variant
(NM_033364.3)
Sperm volume (mL)Sperm concentration (106/mL)Total motility 1 hourVitalityNormal spermatozoaAbsent flagellaShort flagellaCoiled flagellaBent flagellaFlagella of irregular calibreTapered headThin headMicrocephalicMacrocephalicMultiple headsAbnormal baseAbnormal acrosomal region
MAATS1_1 c.682+1G>A35.20500344422NA46168002840
MAATS1_2 c.682+1G>A3.637.5563018241605632206002494
MAATS1_3 c.124G>C; p.(Asp42His)3.841.15701213129210170005345
MAATS1_4 c.124G>C; p.(Asp42His)1.7151350304213621063008238
MAATS1_5 c.124G>C; p.(Asp42His)2.57.21021024301004010010201090
MAATS1_6 c c.124G>C; p.(Asp42His)18.250200>10>10>10NA>10NANANANANANANA
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.