|
|
|
|
|
|
|
|
|
Paternal |
Maternal |
6 |
Poor skull development, nasal bones not shown, poor ossification of
the lumbar vertebral body of the spine, poor ossification of the sacral
caudal vertebral arch and vertebral body |
NM_001024630.3 |
RUNX2:c.931_946del(p.T311fs) |
Exon7 |
Het |
chr6:45480054-45480069 |
Pathogenic |
PVS1++PS2+PM2 |
Wild |
Wild |
11
|
Fetal nasal and jaw abnormalities
|
NM_000047.2
|
ARSE:c.331C>T(p.R111C)
|
Exon5
|
Hemi
|
chrX:2871283-2871283
|
Likely
pathogenic
|
PM1+PM2+PM5+PP3
|
Wild
|
Het
|
17 |
FL<-3.9SD,HL<-4.3SD; uneven ossification of
some vertebral bodies |
NM_001844.4 |
COL2A1:c.1420-2A>G |
Intron22 |
Het |
chr12:48380228-48380228 |
Pathogenic |
PVS1+PS2+PM2+ PP3 |
Wild |
Wild |
25 |
HL<-2.6SD,HC<-2.8SD |
NM_004247.3 |
EFTUD2:c.1705C>T(p.R569X) |
Exon17 |
Het |
chr17:42937814-42937814 |
Pathogenic |
PVS1+PS2+PM1+PM2+ PP3 |
Wild |
Wild |
28
|
Short limb development
|
NM_001844.4
|
COL2A1:c.1924G>A(p.G642R)
|
Exon29
|
Het
|
chr12:48377887-48377887
|
Likely
pathogenic
|
PS2+PM2 +PP3+PP4
|
Wild
|
Wild
|
45 |
FL<-2.0SD,HL<-2.0SD, nose bones not shown |
NM_001024630 .3 |
RUNX2:c.568C>T(p.R190W) |
Exon9 |
Het |
chr6:45399744-45399744 |
Pathogenic |
PS1+PS2+PM1+PM2+ PP3 |
Wild |
Wild |
49 |
Bilateral foot varus,cervical
thoracic spine bends backward |
NM_000334.4 |
SCN4A:c.4361G>A(p.R1454Q) |
Exon24 |
Het |
chr17:62019281-62019281 |
Likely pathogenic |
PM1+PM2+PM5+PP3 |
Het |
Wild |
|
|
NM_000334.4 |
SCN4A:c.481G>A(p.E161K) |
Exon3 |
Het |
chr17:62049497-62049497 |
Likely pathogenic |
PM1+PM2+PM3+PP3 |
Wild |
Het |
50 |
FL<-3.0SD, The femur is slightly curved and the long bone
is dysplastic |
NM_000089.3 |
COL1A2:c.2261G>T(p.G754V) |
Exon37 |
Het |
chr7:94049926-94049926 |
Pathogenic |
PS1+PS2+PM2 +PP3 |
Wild |
Wild |
67
|
HC<-2.0SD,HL<-8.0SD,FL<-5.0SD;Abnormal
ossification of both humerus and femur, poor ossification of cervical
vertebra
|
NM_000288.3
|
PEX7:c.283T>G(p.W95G)
|
Exon3
|
Het
|
chr6:137147551-137147551
|
Likely
Pathogenic
|
PM1+PM2+PM3+PP3
|
Het
|
Wild
|
|
|
NM_000288.3
|
PEX7 :c.408dup(p.V137Cfs*16)
|
Exon4
|
Het
|
chr6:137166820-137166820
|
Likely
Pathogenic
|
PVS1+PM2
|
Wild
|
Het
|
76 |
Bilateral foot varus,Abnormal hand posture, |
NM_001271208.1 |
NEB:c.1569+5G>A |
Exon17 |
Het |
chr2:152553146-152553146 |
VUS |
PM2+PM3+PP3 |
Het |
Wild |
|
|
NM_001271208.1
|
NEB:c.2278C>T(p.Q760*)
|
Exon24
|
Het
|
chr2:152547273-152547273
|
Likely
Pathogenic
|
PVS1+PM2
|
Wild
|
Het
|
77 |
Fingers merge, toes merge, temporal depression,.Pregnant women also
have finger merge and toe merge |
NM_000141.4 |
FGFR2:c.755C>G(p.S252W) |
Exon7 |
Het |
chr10:123279677-123279677 |
Pathogenic |
PM6_VeryStrong+PS3+PM2+PP3 |
Wild |
Het |