Table 1 Summary of the variants identified by WES of families with recurrent fetal loss
Patient ID | Variant remaining after WES filtering | Effect of the mutation | Relevance to embryonic lethality |
|---|---|---|---|
14DG1727 | GUSB:NM_000181:exon2:c.307C > T:p.R103W | Replaces a highly conserved amino acid (PolyPhen score 1; SIFT score 0) | Known cause of NIHF in severe cases |
14DG1819 | GUSB:NM_000181:exon10:c.1586A > G:p.Y529C | Replaces a highly conserved amino acid (PolyPhen score 1; SIFT score 0) | Known cause of NIHF in severe cases |
10DG0827 | CHRNA1:NM_001039523:exon7:c.762C > T:p.R254C | Replaces a highly conserved amino acid (PolyPhen score 1; SIFT score 0) | Known cause of NIHF in severe cases |
09DG01201 | PIGC:NM_002642:exon2:c.659 T > C:p.L220P | Replaces a highly conserved amino acid (PolyPhen score 0.998; SIFT score 0.01) | Novel candidate |
12DG2262 | UBN1:NM_016936:exon14:c.2356 T > A:p.L786M | Replaces a highly conserved amino acid (PolyPhen score 0.915; SIFT score 0.02) | Novel candidate |
13DG0042 | GUSB:NM_000181:exon7:c.1144C > T:p.R382C | Replaces a highly conserved amino acid (PolyPhen score 0.995; SIFT score 0) | Known cause of NIHF in severe cases |
13DG0259 | None | - | - |
13DG0447 | DNAH14:NM_001373:exon23:c.3755 T > A:p.M1252K | Replaces a highly conserved amino acid (PolyPhen score 0.805; SIFT score 0) | Novel candidate |
13DG0806 | THSD1:NM_018676:exon3:c.617G > A:p.C206Y | Replaces a highly conserved amino acid (PolyPhen score 0.999; SIFT score 0) | Novel candidate |
13DG0975 | NEB:NM_001164507:exon140:c.21076C > T:p.R7026X | Truncation of >50 % of the protein | Known cause of NIHF in severe cases |
13DG1635 | CTSA:NM_000308:exon6:c.649delC:p.L217fs | Truncation of >75 % of the protein sequence | Known cause of NIHF in severe cases |
13DG1885 | MYOM1:NM_003803:exon38:c.4987G > A:p.V1663M | Replaces a highly conserved amino acid (PolyPhen score 0.999; SIFT score 0) | Novel candidate |
13DG2155 | GUSB:NM_000181:exon3:c.398G > C:p.W133S, | Replaces a highly conserved amino acid (PolyPhen score 0.984; SIFT score 0) | Known cause of NIHF in severe cases |
14DG0052 | FZD6:NM_001164616:exon5:c.773A > G:p.Y258C | Replaces a highly conserved amino acid (PolyPhen score 1; SIFT score 0) | Novel candidate |
14DG0946 | THSD1:NM_018676:exon3:c.617G > A:p.C206Y | Replaces a highly conserved amino acid (PolyPhen score 0.999; SIFT score 0) | Novel candidate |
14DG0947 | GUSB:NM_000181:exon7:c.1069C > T:p.R357X | Truncation of >75 % of the protein sequence | Known cause of NIHF in severe cases |
14DG1037 | GALNT14:NM_024572:exon13:c.C1273T:p.R425X | Truncation of >75 % of the protein sequence | Novel candidate |
14DG1695 | THSD1:NM_018676:exon3:c.617G > A:p.C206Y | Replaces a highly conserved amino acid (PolyPhen score 0.999; SIFT score 0) | Novel candidate |
14DG11738 | THSD1:NM_018676:exon3:c.G670A:p.R224X | Truncation of >75 % of the protein sequence | Novel candidate |