Results
A total of 10 variants of 7 genes were detected, including 2
pathogenicity variant, 4 likely pathogenicity variant and 4 uncertain
significance variant. Four families were accepted as positive results,
with a definite diagnosis rate of 28.6% (4/14). Case 1 was type 4 of
autosomal dominant polycystic kidney disease caused by complex
heterozygous variation of PKHD1 gene, Case 2 was Alagille
syndrome caused by heterozygous variation of JAG1 gene, Case 5
and Case7 were type 3 of short rib dysplasia caused by complex
heterozygous variation of DYNC2HI gene.