A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype

Joubert syndrome (JBTS; OMIM #PS213300) is a rare neurodevelopmental disorder that presents with variable degrees of developmental delay, hypotonia, and ataxia. The radiologic hallmark of JBTS is the “molar tooth sign” (MTS) on magnetic resonance imaging (MRI) of the brain, which is caused by midbrain-hindbrain malformations. 1 Hardee I. Soldatos A. Davids M. et al. Defective ciliogenesis in INPP5E-related Joubert syndrome. Am J Med Genet. 2017; 173: 3231-3237 Crossref PubMed Scopus (18) Google Scholar ,2 Bachmann-Gagescu R. Dempsey J.C. Phelps I.G. et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015; 52: 514-522 Crossref PubMed Scopus (194) Google Scholar