Abstract
BackgroundJoubert 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 presentationA 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) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance.ConclusionIn this study, we identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the PIBF1 pathogenic variant spectrum of Joubert syndrome.
Highlights
Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity
We identified two novel pathogenic variants on Progesterone immunomodulatory binding factor 1 (PIBF1) in a Joubert syndrome individual using whole exome sequencing
We identified two novel pathogenic variants (NM_ 006346.2: c.1147delC and c.1054A > G) in PIBF1 by whole exome sequencing of a Joubert syndrome individual
Summary
Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. As Joubert syndrome is a genetically heterogeneous disease, causal genes and their variants have been identified with improved sequencing technologies. Wheway et al first identified 4 variants or deletions in the PIBF1 gene associated with Joubert syndrome from Hutterite families and other families [6].
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