Ciliopathies: Genetic Counseling

Abstract Joubert syndrome (JS) follows autosomal recessive inheritance, with rare X-linked recessive cases. The disease is genetically heterogeneous with neurological features associated with multiorgan involvement (e.g., retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly). The incidence of JS and related disorders is between 1/80,000 and 1/100,000 live births. Many causative genes have been identified, all encoding for proteins of the cilium or the centrosome, making the JS part of a group of diseases called “ciliopathies.” The identification of the molecular defect in couples at risk is allowed by prenatal genetic testing, whereas fetal ultrasound and brain neuroimaging are informative in the first and second trimester of pregnancy.