Genetic Characterization of Joubert Syndrome with COACH Features and in Silico Prediction of

Background: Joubert syndrome (JS) is an uncommon genetic condition presenting with diverse clinical manifestations involving the nervous system, liver, and eyes. A specific form of JS, known as cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) syndrome, is primarily associated with variants in the Methods: This study reports an 8-year-old girl with a family history of developmental delay who shows clinical features typical of JS with the COACH phenotype. To verify the disease-causing nature of the genetic variant, whole exome sequencing along with in silico analysis was conducted. The variant's conservation across species highlighted its functional significance, and a co-segregation study confirmed its inheritance pattern. Moreover, we collected all Results: Our investigation revealed a homozygous missense variant in Conclusion: This study highlights the intricate nature of JS and its genetic foundations, emphasizing the significance of founder variants in specific populations and the potential of national databases to enhance the precision of genetic diagnoses.