Table 1 Summary of main malformation classification and molecular results for 55 cases with skeletal abnormalities
From: Genetic analysis of 55 cases with fetal skeletal dysplasia
NO. | G (weeks) | Main malformation classification | Method | Molecular result | Inheritance | Variant type (ACMG) |
|---|---|---|---|---|---|---|
1 | 20+5 | Multiple malformations | CNV-seq | Trisomy-18 | Â | Â |
2 | 13+ | Multiple malformations | CNV-seq | Trisomy-18 | Â | Â |
3 | 15 | Multiple malformations | CNV-seq | Trisomy-18 | Â | Â |
4 | 18+2 | Multiple malformations | CNV-seq | Trisomy-18 | Â | Â |
5 | 32+ | Multiple malformations | CNV-seq | Trisomy-18 | Â | Â |
6 | 23+ | Multiple malformations | CNV-seq | 46, XX; Xp22.33p22.12 | Â | Â |
| Â | Â | Â | Â | (2700000-19680000) x1; | Â | Â |
| Â | Â | Â | Â | 11p15.5p15.4 | Â | Â |
| Â | Â | Â | Â | (180000-7100000) x3; | Â | Â |
| Â | Â | Â | Â | 20q13.2 | Â | Â |
| Â | Â | Â | Â | (50380000-50640000) x1 | Â | Â |
7 | 23+1 | Multiple malformations | CNV-seq | 69, XXX | Â | Â |
8 | 21 | Multiple malformations | CNV-seq, WES | ALG1(NM-019109.4); | AR; Het; | Â |
| Â | Â | Â | Â | c.259G>C (p.G87R) | Paternal; | Novel/VUS(PM2-supporting+BP4) |
| Â | Â | Â | Â | c.1327G>A (p.E443K) | Maternal; | Novel/VUS(PM2-supporting) |
9 | 16 | Multiple malformations | CNV-seq, WES | No abnormalities | Â | Â |
10 | 24 | Multiple malformations | CNV-seq, WES | No abnormalities | Â | Â |
11 | 24+6 | Short limb deformities | CNV-seq, Panel | FGFR3 (NM-000142); c.742C>T (p.R248C); | AD; Het; De novo; | Reported/P (PMID:7773297) |
12 | 19+5 | Short limb deformities | CNV-seq, Panel | FGFR3 (NM-000142); c.742C>T (p.R248C); | AD; Het; De novo; | Reported/P |
13 | 26+5 | Short limb deformities | CNV-seq, Panel | FGFR3 (NM-000142); c.835A>T (P.S279C) | AD; Het; De novo; | Reported/P (PMID:17895900) |
14 | 32+4 | Short limb deformities | CNV-seq, Panel | FGFR3 (NM-000142); c.1138G>A (p.G380R) | AD; Het; De novo; | Reported/P (PMID:25614871) |
15 | 24 | Short limb deformities | CNV-seq, Panel | FGFR3 (NM-000142); c.1949A>T (p.K650M) | AD; Het; De novo; | Reported/P (PMID:10053006) |
16 | 20 | Short limb deformities | CNV-seq, Panel | COL1A1 (NM-000088); c.1094G>T (p.G365V) | AD; Het; De novo; | Reported/P (PMID:17078022) |
17 | 18+ | Short limb deformities | CNV-seq, Panel | COL1A2 (NM-000089); c.3134G>A (p.G1045D) | AD; Het; De novo; | Novel/LP (PS2+PM2-supporting+PP3) |
18 | 22 | Short limb deformities | CNV-seq, Panel | COL1A2 (NM-000089); c.2835+1G>T | AD; Het; Maternal; | Reported/P (PMID:15077201) |
19 | 35 | Short limb deformities | CNV-seq, Panel | COL2A1 (NM-001844); c.3121G>A (p.G1041S) | AD; Het; De novo; | Reported/P (PMID: 17347327) |
20 | 22+5 | Short limb deformities | CNV-seq, Panel | COL2A1 (NM-001844); c.2213G>T (p.G738V) | AD; Het; De novo; | Novel/LP (PS2+PM2-supporting+PP3) |
21 | 23 | Other skeletal dysplasia | CNV-seq, Panel | FGFR2 (NM-000141); c.755C>G (p.S252W) | AD; Het; De novo; | Reported/P (PMID:26380986) |
22 | 27 | Short limb deformities | CNV-seq, Panel | RMRP (NR-003051.3); | AR; Het; | Â |
| Â | Â | Â | Â | n.181G>A | Maternal; | Reported/LP (PMID:27862957) |
| Â | Â | Â | Â | n.70G>A | Paternal; | Reported/LP (PMID:12107819) |
23 | 25 | Short limb deformities | CNV-seq, Panel | No abnormalities | Â | Â |
24 | 27+5 | Short limb deformities | CNV-seq, Panel | No abnormalities | Â | Â |
25 | 17 | Short limb deformities | CNV-seq, Panel | No abnormalities | Â | Â |
26 | 19+4 | Short limb deformities | WES | FGFR3 (NM-000142); c.742C>T (p.R248C); | AD; Het; De novo; | Reported/P |
27 | 24 | Short limb deformities | WES | FGFR3 (NM-000142); c.742C>T (p.R248C); | AD; Het; De novo; | Reported/P |
28 | 19+5 | Short limb deformities | WES | FGFR3 (NM-000142); c.742C>T (p.R248C); | AD; Het; De novo; | Reported/P |
29 | 19 | Short limb deformities | WES | FGFR3 (NM-000142); c.742C>T (p.R248C); | AD; Het; De novo; | Reported/P |
30 | 33 | Short limb deformities | WES | FGFR3 (NM-000142); c.1138G>A (p.G380R) | AD; Het; De novo; | Reported/P |
31 | 31+2 | Short limb deformities | WES | FGFR3 (NM-000142); c.1138G>A (p.G380R) | AD; Het; De novo; | Reported/P |
32 | 29+4 | Short limb deformities | WES | FGFR3 (NM-000142); c.1138G>A (p.G380R) | AD; Het; De novo; | Reported/P |
33 | 28 | Short limb deformities | WES | FGFR3 (NM-000142); c.1138G>A (p.G380R) | AD; Het; De novo; | Reported/P |
34 | 32 | Short limb deformities | WES | FGFR3 (NM-000142); c.1138G>A (p.G380R) | AD; Het; De novo; | Reported/P |
35 | 32 | Short limb deformities | WES | FGFR3 (NM-000142); c.1138G>C (p.G380R) | AD; Het; De novo; | Reported/P (PMID: 7913883) |
36 | 20 | Short limb deformities | WES | 47, XYY; COL1A1 (NM-000088.3); c.2371G>A (p.G791S) | AD; Het; De novo; | Novel/LP (PS2+PM2-supporting+PP3) |
37 | 23+4 | Short limb deformities | WES | COL1A1 (NM-000088.3); c.1670G>A (p.G557D) | AD; Het; De novo; | Novel /LP(PS2+PM2-supporting+PP3+PP4) |
38 | 23+1 | Short limb deformities | WES | COL1A1 (NM-000088); c.4115A>C (p.N1372T) | AD; Het; De novo; | Novel /LP(PM1+PM2-supporting+PM6+PP3) |
39 | 14+ | Short limb deformities | WES | COL1A1 (NM-000088); c.2399G>A (p.G800E) | AD; Het; De novo; | Novel/LP (PM1+PM2-supporting+PM6+PP2+PP3) |
40 | 17+1 | Short limb deformities | WES | COL1A2 (NM-000089.3); c.1928G>A (p.G643E) | AD; Het; De novo; | Novel/LP (PM2-supporting+PM6+PP3+PP4) |
41 | 16 | Short limb deformities | WES | COL1A2 (NM-000089.3); c.2189G>A (p.G730D) | AD; Het; De novo; | Novel/LP (PM2-supporting+PM6+PP3+PP4) |
42 | 13 | Short limb deformities | WES | COL2A1 (NM-001844); c.2303G>T (p.G768V) | AD; Het; Maternal; | Novel/LP (PS2+PM2-supporting-Sup+PP1+PP3) |
43 | 16 | Short limb deformities | WES | DYNC2H1 (NM-001080463); | AR; Het; | Â |
| Â | Â | Â | Â | c.2947-2A>G | Maternal; | Novel/LP (PVS1+PM2-supporting) |
| Â | Â | Â | Â | c.7720G>A (p.V2574I) | Paternal; | Novel/LP (PM3+PM2-supporting+PP3) |
44 | 27+2 | Short limb deformities | WES | DYNC2H1 (NM-001080463); | AR; Het; | Â |
| Â | Â | Â | Â | c.10606C>T (p.3536*) | Paternal; | Reported/LP (PMID:29068549) |
| Â | Â | Â | Â | c.8954T>G (p.V2985G) | Maternal | Novel/LP (PM1+PM2-supporting+PM3+PP3) |
45 | 33 | Short limb deformities | WES | DYNC2H1 (NM-001080463); | AR; Het; | Â |
| Â | Â | Â | Â | c.9182-9185delAGAG (p.E3061fs) | Maternal; | Novel/LP(PVS1+PM2-supporting+PM3) |
| Â | Â | Â | Â | c.7495C>G (p.L2499V) | Paternal | Reported/LP (PMID:28492532) |
46 | 16+6 | Short limb deformities | WES | DYNC2H1 (NM-001080463); | AR; Het; | Â |
| Â | Â | Â | Â | c.557G>T (p.G186V) | Maternal; | Novel/LP (PM1+PM2-supporting+PM3+PP3) |
| Â | Â | Â | Â | c.7643T>C (p.F2548S) | Paternal | Novel /LP (PS1+PM1+PM2-supporting+PP3) |
47 | 14 | Short limb deformities | WES | DYNC2H1 (NM-001080463); | AR; Het; | Â |
| Â | Â | Â | Â | c.8190G>T (p.L2730F) | Maternal; | Reported/LP (ClinVar) |
| Â | Â | Â | Â | c.8621delC (p.L2876fs*15) | Paternal | Novel/LP (PVS1+PM2-supporting+PM3) |
48 | 12 | Other skeletal dysplasia | WES | ALPL (NM-000478.6); | AR; Het; | Â |
| Â | Â | Â | Â | c.1282C>T (p.R428*) | Paternal; | Reported/P (PMID:10636450) |
| Â | Â | Â | Â | c.407G>A (p.R136H) | Maternal | Reported/P (PMID:11855933) |
49 | 12 | Short limb deformities | WES | EVC2 (NM-147127.5); | AR; Het; | Â |
| Â | Â | Â | Â | c.871-2A>G | Maternal; | Novel/P (PVS1+PM2-supporting +PM3) |
| Â | Â | Â | Â | a deletion of 0.15Mb (chr4:5564145-5710240) | Paternal; | Novel/P (PVS1+PM2-supporting +PM3). |
50 | 13 | Other skeletal dysplasia | WES | GNAI3 (NM-006496); c.119G>T (p.G40V) | AD; Het; De novo; | Novel/LP (PM1+PM2-supporting +PM6+PP3) |
51 | 33+6 | Short limb deformities | WES | NPR2 (NM-003995.3); c.1111C>T (p.R371*) | AD; Het; Maternal*; | Reported/LP (PMID:25525159) |
52 | 23 | Short limb deformities | WES | No abnormalities | Â | Â |
53 | 23 | Short limb deformities | WES | No abnormalities | Â | Â |
54 | 25+4 | Other skeletal dysplasia | WES | No abnormalities | Â | Â |
55 | 18+5 | Short limb deformities | WES | No abnormalities | Â | Â |