Table 1.
Pathogenic variants of DSB formation genes identified in POI patients and their clinical characteristics.
| Gene name | Gene function | Patient number | Variants identified | Clinical characteristics | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genotype | Variant | ACMG/AMP classification | Age at diagnosis, years | Menarche onset, years | Stature, months | BMI | AMH, ng/mL | FSH, mIU/mL | E2,pg/mL | |||
| PRDM9 | Determine the location of DSB hotspots, where genetic recombination occurs | Patient 1 | Het | c.229C>T: p.Arg77* | Pathogenic | 27 | 13 | 1.65 | 21.3 | <0.085 | 40.64 | <5.0 |
| Patient 2 | Het | c.229C>T: p.Arg77* | Pathogenic | 23 | 16 | 1.58 | 21.63 | 0.012 | 116.5 | <5.0 | ||
| Patient 3 | Het | c.677A>T: p.Lys226Met | Pathogenic | 31 | 15 | 1.63 | 27.4 | <0.060 | 99.09 | NA | ||
| Patient 4 | Het | c.638T>G: p.Ile213Ser | Pathogenic | 33 | 15 | 1.61 | 23.15 | NA | 76.62 | 60 | ||
| ANKRD31 | Act as a scaffold to anchor REC114 and MEI4, thereby regulate DSB formation | Patient 5 | Het | c.985C>T: p.Gln329* | Pathogenic | 36 | 16 | 1.60 | 25.78 | 0.98 | 68.3 | <5.0 |
| Patient 6 | Het | c.985C>T: p.Gln329* | Pathogenic | 30 | 14 | 1.58 | 24.84 | 0.002 | 112.74 | 22.55 | ||
| Patient 7 | Het | c.1565-2A>G | Pathogenic | 37 | 13 | 1.55 | 31.22 | <0.087 | 45.2 | 20.7 | ||
SI conversion factor: To convert FSH to IU/L, multiply by 1.0; to convert E2 to pmol/L, multiply by 3.671.
ACMG/AMP American College of Medical Genetics and Genomics/Association for Molecular Pathology, AMH antimullerian hormone, BMI body mass index, DSB double strand break, FSH follicle-stimulating hormone, Het heterozygote, NA not available, POI premature ovarian insufficiency.