Correlation between abnormal results of FGFR3 gene
sequenced by WES and clinical phenotypes by ultrasound
Among 25 cases that are positive by WES, 7 cases are caused byFGFR3 gene mutation, accounting for 28%.Among them, 6 cases areFGFR3 gene c.1138G>A mutation, and 1 case isFGFR3 gene c.1620C>A
mutation. In these 7 cases, the
ultrasound test results of almost all cases show FL<-4.0SD or
HL<-4.0SD(Only one case of short limbs with ambiguous
data),among which 3 cases of ultrasound test results also show
macrocephaly, accounting for 42.8%.Besides, all genetic variations are
de novo.(Table.2)
Correlation between
abnormal results of COL1A1 gene sequenced by WES and clinical
phenotypes by ultrasound
Among 25 cases that are positive by WES, 3 cases are caused byCOL1A1 gene mutation, accounting for 12%. In these 3 cases, the
ultrasound test results of 2 cases show FL>-4.0SD or
HL>-4.0SD, ),among which all of 3 cases of ultrasound test
results show fetal limbs slightly curved, accounting for 100%. Besides,
One of the three cases has a COL1A1 gene variant inherited from
the pregnant husband, and the rest of COL1A1 gene variant are de novo.
(Table.3)