Table 2.
Summary of Variants Found in Candidate Disease Genes
| Gene | Proband | Hg19 Coordinates | vR/tR | Variant/Protein Change | Zyg | AOH Block Around Gene (Mb) | Total AOH (Mb) | FSH (mIU/mL) | LH (mIU/mL) | Estradiol (pg/mL) |
|---|---|---|---|---|---|---|---|---|---|---|
| IGSF10 | BAB7110 | chr3:151165532 | 110/110 | c.2237C>G;p.P746R | Hom | 23 | 269 | 111 | 39 | 46 |
| IGSF10 | HHMI00103.97 | chr3:151171554 | — | c.346A>G; p.K116E | Hom | — | — | 43 | 27 | 16 |
| IGSF10 | Erasmus MC | chr3: 151154500 | 11/28 | c.7849delG; p.A2617Qfs*6 | Het | — | — | 6 | 4 | <5 |
| MND1 | BAB9440 BAB9444 | chr4:154325119-chr4:154316483 | HMZDel Finder | 8.636Kb Deletion | Hom | 65 | 493 | 73 | 18 | <10 |
| 71 | 525 | 97 | 38 | <10 | ||||||
| MRPS22 a | BAB7669 | chr3:139067066 | 69/69 | c.404G>A; p.R135Q* | Hom | 23 | 211 | 99 | 20 | 0.01 |
| SOHLH1 a | BAB4619 | chr9:138589450 | 40/41 | c.705delT; p.K236Rfs*3 | Hom | 7 | 333 | 99 | 25 | <5 |
| BAB4620 | 87/88 | 9 | 199 | 109 | 25 | 42 |
Abbreviations: Het, heterozygous; Hom, homozygous; tR, total reads; vR, variant reads; Zyg, zygosity.
aPrevious candidate disease genes found in cohort.