Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

BMC Med Genet. 2020 Oct 1;21(1):192. doi: 10.1186/s12881-020-01130-x.

Abstract

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) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance.

Conclusion: In 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.

Keywords: Cerebellar vermis hypoplasia; Joubert syndrome; PIBF1; Whole exome sequencing.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Exome Sequencing / methods*
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Genes, Recessive
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Kidney Diseases, Cystic / diagnosis
  • Kidney Diseases, Cystic / genetics*
  • Male
  • Mutation*
  • Pregnancy Proteins / genetics*
  • Retina / abnormalities*
  • Suppressor Factors, Immunologic / genetics*

Substances

  • PIBF1 protein, human
  • Pregnancy Proteins
  • Suppressor Factors, Immunologic

Supplementary concepts

  • Agenesis of Cerebellar Vermis