Table 1 Clinical features and genetic information of HFM1 mutations in F1 II-1 and F2 II-1
From: Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia
Individuals | F1 II-1 | F2 II-1 |
|---|---|---|
Clinical features | ||
 Age | 28 | 31 |
 Secondary sexual characteristics | Normal | Normal |
 Testicular volume(Left/Right, ml) | 12/12 | 10/10 |
 Somatic karyotype | 46,XY | 46,XY |
 Y Chromosome microdeletions | No | No |
Sex hormone | ||
 Follicle-stimulating hormone(IU/L) | 14.75 | 25.79 |
 Luteinizing hormone(IU/L) | 7.53 | 15.10 |
 Testosterone(nmol/L) | 11.04 | 12.86 |
 Estradiol(pmol/L) | 209.00 | 109.00 |
 Prolactin(ng/ml) | 13.92 | 6.34 |
Information of HFM1 mutations | ||
 cDNA mutation | c.3490C > T | c.3470G > A |
 Mutation type | Stopgain | Missense |
 Protein alteration | p.Q1164X | p.C1157Y |
Allele frequency in human population | ||
 CHN500 | 0 | 0.02 |
 1KGP | 0 | 0.005 |
 ExAC_all | 0 | 0.002 |
 gnomAD | 0 | 0.002 |
Functional prediction | ||
 SIFT | N/A | Damaging |
 PolyPhen-2 | N/A | Probably Damaging |
 MutationTaster | Disease_causing Automatic | Disease_causing |
 CADD | 45 | 29.7 |