Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis_dataset

This dataset shows the clinical and neuroradiological data of the six patients included in the study. Patients clinically have a Joubert-like phenotype, but the genetic analysis disclosed for all of them the causative mutation in genes not associated with Joubert syndrome. For this reason, the patient's MRI and clinic were re-evaluated and the correct diagnosis was reassessed. Here, the following clinical, neuroradiological and genetic data which were taken into account in this study are listed. CLINICAL FINDINGS: Gender, age at examination, phenotype at onset, language, intellectual disability, ataxia, behavioral defects, dysmorphisms, epilepsy. NEUROIMAGING FINDINGS: cerebellar vermis, cerebellar hemispheres, SCPs. GENETIC FINDINGS: gene, variants. While the analysis of JS-related genes was negative, whole exome sequencing (WES) disclosed pathogenic variants in other genes causative of distinct brain malformative conditions with partial clinical and neuroradiological overlap with JS. Reassessment of brain MRIs from five patients by a panel of expert pediatric neuroradiologists blinded to the genetic diagnosis excluded the MTS in all cases but one, which raised conflicting interpretations. This study highlights that the diagnostic yield of NGS-based targeted panels is strictly related to the accuracy of the diagnostic referral based on clinical and imaging assessment, and that WES has an advantage over targeted panel analysis when the diagnostic suspicion is not straightforward.