Joubert Syndrome and Related Disorders Precision Panel

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