Table 1 Clinical evaluation of NOA patients carrying biallelic mutations in MCM9.
Patients | ||
|---|---|---|
AN013 | AN020 | |
Genetics analysis | ||
cDNA mutationa | c.1151-1 G > A | c.1891C>T |
Protein alterationb | NA | p.Gln631X |
Exon | Exon7 | Exon11 |
Mutation type | Splicing | Nonsense |
Allele frequency | ||
1KGP | NA | NA |
ExAC | NA | NA |
gnomAD | 0 | NA |
Deleterious prediction | ||
Mutation Taster | D | D |
CADD | 28.6 | 42 |
Clinical characteristics | ||
Age (years) | 32 | 34 |
Semen parameters | ||
Semen volume (mL) | 3.5 | 2.0 |
Semen PH | 7.2 | 7.2 |
Sperm concentration (106/mL) | 0 | 0 |
Testicular volume (mL) | ||
Right side | 5.0 | 8.0 |
Left side | 5.0 | 5.0 |
Sex hormone levels | ||
FSH (mIU/mL) | 18.81 | 24.05 |
LH (mIU/mL) | 3.16 | 13.25 |
T (nmol/L) | 8.65 | 9.45 |
E2 (pmol/L) | 55.0 | 18.35 |
PRL (ng/mL) | 7.93 | 15.50 |
Karyotype | 46, XY | 46, XY |
AZF deletion | Undetectable | Undetectable |
Sperm retrieval outcomes | ||
micro-TESE | No | No |
