Identification of two novel pathogenic variants ofPIBF1by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants in this individual, and the candidate pathogenic variants were verified by Sanger sequencing. We identified two pathogenic variants (NM_006346.2: c.1147delC and c.1054A > G) ofPIBF1in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance. Conclusion In this study, we identified two novel pathogenic variants inPIBF1in a Joubert syndrome individual using whole exome sequencing, thereby expanding thePIBF1pathogenic variant spectrum of Joubert syndrome.