WES sequencing results.
In case 1, the POC was repeated compound heterozygous variation of thePKHD1 gene (c. 8301delC and exon 57-60 repetition). The
heterozygous variation of c. 8301delC originated from the mother and was
classified as possibly pathogenic variation according to ACMG
guidelines. In case 2,it was a heterozygous variant of JAG1 gene(c.
2078_2079delGT), which was pathogenic and originated from the mother.
Both case 5 and case 7 showed type 3 short rib thoracic dysplasia with
or without polydactyly caused by DYNC2H1 gene. In the case 5,it
is a complex heterozygous variation of DYNC2H1 gene
c.557G>T and c.7643T>C; c.557G>T
is a mutation of uncertain significance and is derived from the mother;
c.7643T>C is a likely pathogenic mutation and is derived
from the father. Family 7 was a complex heterozygous variation ofDYNC2H1 gene c.8190G>T and c. 8621delC, both of
which were likely pathogenic according to the ACMG guidelines, among
which the heterozygous variation of c.8190G>T was from the
mother, and the heterozygous variation of c. 8621delC was from the
father. Although the 10 cases had not been clearly diagnosed, some
variation was found that was in accordance with the clinical phenotype.
Among them, heterozygous variation of CYP21A2 gene (c.
1069C>T) was found in case 3, which was likely pathogenic
and originated from the mother. Heterozygous variations of GLAgene (c.61C >G) and NODAL gene (c.548G>
A) were found in case 4, respectively, and both of them came from the
mother, and their significance was unclear. Heterozygous variation ofGJB2 gene c.176_191del was found in case 9, which was pathogenic
and originated from the mother. The case 10 is a heterozygous variation
of F5 gene (c. 4964C>T), which is derived from the
mother and is of uncertain significance according to the laboratory
classification principle.