Table 3.
Summary of Variants Found in Families With a Potential Oligogenic Inheritance
| Gene | Proband | Hg19 Coordinates | vR/tR | Variant/Protein Change | Zyg | AOH Block Around Gene (Mb) | Total AOH (Mb) | Linked OMIM Disease | FSH (mIU/mL) | LH (mIU/mL) | Estradiol (pg/mL) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CHD7 | BAB7671 | chr8:61655556 | 80/80 | c.1565G>T;p.G522V | Hom | 17 | 351 | 214800, 612370 | 47 | 23 | 17 |
| MCM9 | BAB7671 | chr6:119234579 | 56/56 | c911A>G;p.N304S | Hom | 8 | 351 | 616185 | 47 | 23 | 17 |
| PRKD1 | BAB7671 | chr14:30132955 | 108/108 | c.646C>G;p.R216G | Hom | 14 | 351 | 617364 | 47 | 23 | 17 |
| IGSF10 | BAB7105 | chr3:151161258 | 57/57 | c.5477G>A;p.G1862D | Hom | 46 | 608 | — | 126 | 34 | 20 |
| PNPLA7 | BAB7105 | chr9:140356422 | 15/15 | c.3608T>C;p.I1203T | Hom | NA | 608 | — | 126 | 34 | 20 |
Abbreviations: Hom, homozygous; OMIM, Online Mendelian Inheritance in Man; tR, total reads; vR, variant reads; Zyg, zygosity.