[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome]

To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.The proband of pedigree 1 was a fetus at 23The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.