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.