biostudies-literatureVilboux TIntramural NIH HHSNICHD NIH HHSNINDS NIH HHS875-882https://www.ebi.ac.uk/biostudies/studies/S-EPMC11528337biostudies-literatureUnknown19(8)<h4>Purpose</h4>Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients.<h4>Methods</h4>In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES).<h4>Results</h4>We identified the causative gene in 94% of the families; 126 (27 novel) unique potentially pathogenic variants were found in 20 genes, including KIAA0753 and CELSR2, which had not previously been associaGenetics in medicine : official journal of the American College of Medical GeneticsMolecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.PMC11528337U54 HD083091R01 NS064077Z99 EY999999Phelps IGGahl WAHeller TSoldatos ADoherty DANisc Comparative Sequencing ProgramOden NLZein WMalicdan MCVBrooks BPCullinane ARVemulapalli MVilboux TParisi MAMullikin JCYildirimli DGlass IAGunay-Aygun MfalseMolecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.<h4>Purpose</h4>Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients.<h4>Methods</h4>In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES).<h4>Results</h4>We identified the causative gene in 94% of the families; 126 (27 novel) unique potentially pathogenic variants were found in 20 genes, including KIAA0753 and CELSR2, which had not previously been associa2017-01-01T00:00:00Z2017 Aug2026-06-03T00:09:49.878Z2025-04-06T09:33:47.294ZS-EPMC115283372812508210.1038/gim.2016.204