No. | Bone gene encoded | Nucleotide mutation | Amino-acid change | Heterozygosity | Mutation type | Inheritance | Inheritance type | Pregnancy Outcomes |
---|---|---|---|---|---|---|---|---|
1 | FGFR3 | c.1015C > T | p. Arg339Ter | Het | Likely pathogenic | De novo | AD | Induced labor |
2 | WNT1 | c.1027G > C | p. Glu343Gln | Het | VUS | Paternal | AR | Induced labor |
3 | FGFR3 | c.1144G > A | p. Gly282Arg | Het | pathogenic | De novo | AD | Induced labor |
4 | FBN1 OBSL1 | c.7842 T > A c.2135-3_2135-2delCA | p. Ala2614Ala p.2135-3_2135-2delCA | Het | VUS | Biparental | AD AR | Vaginal delivery |
5 | COL1A1 | c.824G > A | p. Gly275Asp | Het | VUS | De novo | AD | Induced labor |
6 | IMPAD1 | c.700G > T CDS4-5del | p.E234* CDS4-5 del | Hom Het | pathogenic | Biparental | AR | Cesarean Section(death) |
7 | FBN2 | Exon21-25del | Exon21-25del | Het | Likely Pathogenic | De novo | AR | Induced labor |
8 | DYNC2H1 NEK1 | c.2641G > T c.859C > G | p. Asp881Tyr p. Pro287Ala | Het | VUS | Biparental | AR | Induced labor |
9 | COL1A2 | c.1118G > C | p. Gly373Ala | Het | Likely pathogenic | Maternal | AD | Induced labor |
10 | GORAB | c.178C > T | p. Arg60* | Het | pathogenic | Maternal | AR | Cesarean section |
11 | N | N | N | N | N | N | N | Cesarean section |
12 | FGFR3 | c. 1138 G > A | p. Gly380Arg | Het | pathogenic | De novo | AD | Induced labor |
13 | N | N | N | N | N | N | N | Vaginal delivery |
14 | N | N | N | N | N | N | N | Vaginal delivery |
15 | CUL7 | c.3355 + 5G > A c.3722_3749dup | p. V1252Gfs*23 | Het | Likely pathogenic | Biparental | AR | Induced labor |
16 | N | N | N | N | N | N | N | Vaginal delivery |
17 | N | N | N | N | N | N | N | Vaginal delivery |
18 | DYNC2H1 | c.4072C > T | p. Arg1358Cys | Het | Likely pathogenic | De novo | AR | Induced labor |
19 | N | N | N | N | N | N | N | Cesarean section |
20 | FGFR3 | c.2420G > C | p.*807Sext*101 | Het | Likely pathogenic | De novo | AD | Induced labor |
21 | N | N | N | N | N | N | N | Cesarean section |
22 | FGFR3 | c.1948A > G | p. Lys650Glu | Het | pathogenic | De novo | AD | Induced labor |
23 | FGFR3 | c.742C > T | p. Arg248Cys | Het | pathogenic | De novo | AD | Induced labor |
24 | N | N | N | N | N | N | N | N |