Table II.
Eight candidate genes involved in cell cycle regulation or oocyte maturation with rare non-synonymous candidate variants that are shared between the proband and her mother.
| Gene | Single nucleotide polymorphism | Minor allele frequency | Protein change* | Protein damage | |
|---|---|---|---|---|---|
| PLCD4 | Phospholipase C, delta 4 | 2,219501020,1,T/C | Novel | L696P | Damaging |
| OSBPL5 | Oxysterol binding protein-like 5 | 11,3123481,1,C/G | Novel | G385R | Damaging |
| YES1 | Proto-oncogene tyrosine-protein kinase Yes | 18,745840,1,T/C | C: 0.009 | I198V | Tolerant |
| MBD4 | Methyl-CpG-binding domain protein 4 | 3,129150385,1,C/G | G: 0.004 | D250H | Damaging |
| CSF1R | Colony stimulating factor 1 receptor | 5,149435645,1,G/A | Novel | T833M | Damaging |
| NLRP10 | NOD-like receptor family pyrin-domain containing 10 | 11,7982144,1,C/A | A: <0.001 | D339Y | Damaging |
| CEP250 | Centrosomal protein 250 kDa | 20,34092555,1,A/G | G: 0.006 | N2120D | Not scored |
| BNC2 | Zinc finger protein basonuclin-2 | 9,16436952,1,G/C | C: 0.009 | L414V | Tolerant |
*Refers to: NP_116115.1 (PLCD4); NP_001137535.1, NP_663613.1 (OSBPL5); NP_005424.1 (YES1); NP_001263202.1 (MBD4); NP_001275634.1, NP_005202.2 (CSFR1); NP_789791.1 (NLRP10); NP_009117.2 (CEP250); NP_060107.3 (BNC2).