Correlation between abnormal results of other gene sequenced by WES and clinical phenotypes by ultrasound
Among 25 cases that are positive by WES,11 cases are caused by other gene mutation accounting for 44%. In these 11 cases, there are 2 cases caused by RUNX2 gene mutation, both of which have nasal bones not shown by ultrasound. In addition, there are 2 cases due to COL2A1gene mutation, both of which have short limbs by ultrasound.The other 7 cases are caused by ARSE gene mutation, EFTUD2gene mutation, SCN4A gene mutation, COL1A2 gene mutation,PEX7 gene mutation, NEB gene mutation and FGFR2gene mutation. Ultrasound test results related to these 7 genetic variations are mainly manifested by phenotypes other than short limbs, such as microcephaly, bilateral foot varus, the femur is slightly curved, abnormal ossification of both humerus and femur, fingers merge , toes merge, etc.(Table.4)
Correlation between abnormal results ofcopy number variation (CNV) sequenced by WES and clinical phenotypes by ultrasound
Among 25 cases that are positive by WES,4cases are caused by copy number variation accounting for 16%. Among these 4 cases, 3 cases were caused by chromosome copy number variation, and 1 case was chromosomal aneuploidy (Trisomy 21). 3 cases of chromosomal copy number variation were all deletions, and their phenotypes by ultrasound varied. 1 case of trisomy 21 has a phenotype for nasal bone dysplasia by ultrasound.(Table.5)
Table.1 Correlation between positive results by WES and clinical phenotypes by ultrasound