An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)

• DOI: 10.1055/s-0042-1760242
• Publication Date: 2023-01-06T00:10:29Z
• Authors: Maria Amorini; Giulia Iapadre; Alessio Mancuso; Ida Ceravolo; Giovanni Farello; Annarita Scardama...; Simone Gramaglia; Antonio Ceravolo; Annamaria Salpietro; Caterina Cuppari
• Keywords: Joubert syndrome; Ciliopathy

Abstract Joubert syndrome (JS) is a rare autosomal recessive disease characterized by peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture often associated with variable multiorgan involvement, mainly of the retina, kidneys liver, defining group conditions termed syndrome-related disorders (JSRD). Currently, more than 30 causative genes have been identified, involved in development stability primary cilium. Correlations genotype–phenotype are emerging between clinical presentations mutations JSRD genes, implications terms molecular diagnosis, prenatal follow-up, management mutated patients.