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        Genomics Precision Diagnostic > Prenatal > Joubert Syndrome and Related Disorders Precision Panel

        Joubert Syndrome and Related Disorders  Precision Panel

        Joubert Syndrome (JS) and Related Disorders (JSRD) are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • Joubert Syndrome (JS) and Related Disorders (JSRD) are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Cilia play a crucial role in appropriate axonal growth and connectivity which are essential for functional wiring of the brain. The classic midbrain-hindbrain malformation is a hallmark image finding known as molar tooth sign. Joubert Syndrome and Related Disorders are a group of clinically and genetically heterogeneous disorders involving ciliopathy-related genes. Therefore, clinical manifestations have multiorgan involvement, mainly retinal dystrophy, hepatic fibrosis and polydactyly, among others. With the exception of rare X-linked recessive cases, Joubert Syndrome and Related Disorders follow an autosomal recessive inheritance pattern.  
        • The Igenomix Joubert Syndrome and Related Disorders Precision Panel can serve as a screening and diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

        Indication

        • The Igenomix Joubert Syndrome and Related Disorders Precision Panel is indicated for those patients with clinical and/or imaging findings suggestive of Joubert Syndrome and Related Disorders presenting with the following manifestations: 
          • Hypotonia 
          • Developmental delay 
          • Ataxia 
          • Abnormal eye and tongue movements 
          • Respiratory control disturbances 
          • Cleft lip or palate 
          • Seizures 

        Clinical Utility

        The clinical utility of this panel is: 

        • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
        • Early initiation of treatment involving a multidisciplinary team focusing on respiratory and feeding problems in neonates and infants. Cognitive and behavioral assessments with adequate neuropsychological rehabilitation. 
        • Risk assessment of asymptomatic family members according to the mode of inheritance. 
        • Improvement of delineation of genotype-phenotype correlation. 
        • Identification of molecular defect in couples at risk allowing prenatal genetic tasting where neuroimaging may be uninformative early in the pregnancy.  

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        Valente EM, Dallapiccola B, Bertini E. Joubert syndrome and related disorders. Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. PMID: 23622411. 

        Parisi, M., & Glass, I. (2003). Joubert Syndrome. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle. 

        Radha Rama Devi, A., Naushad, S. M., & Lingappa, L. (2020). Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology, 106, 43–49. https://doi.org/10.1016/j.pediatrneurol.2020.01.012 

        Brancati, F., Dallapiccola, B., & Valente, E. M. (2010). Joubert Syndrome and related disorders. Orphanet journal of rare diseases, 5, 20. https://doi.org/10.1186/1750-1172-5-20 

        Guo, J., Otis, J. M., Suciu, S. K., Catalano, C., Xing, L., Constable, S., Wachten, D., Gupton, S., Lee, J., Lee, A., Blackley, K. H., Ptacek, T., Simon, J. M., Schurmans, S., Stuber, G. D., Caspary, T., & Anton, E. S. (2019). Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models. Developmental cell, 51(6), 759–774.e5. https://doi.org/10.1016/j.devcel.2019.11.005 

        Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O’Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., O’Day, D., Alswaid, A., Ramadevi A, R., Lingappa, L., Lourenço, C., Martorell, L., Garcia-Cazorla, À., Ozyürek, H., … Doherty, D. (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of medical genetics, 52(8), 514–522. https://doi.org/10.1136/jmedgenet-2015-103087 

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