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

Author:

Amorini Maria1,Iapadre Giulia2,Mancuso Alessio1,Ceravolo Ida3,Farello Giovanni4,Scardamaglia Annarita5,Gramaglia Simone1,Ceravolo Antonio6,Salpietro Annamaria7,Cuppari Caterina1

Affiliation:

1. Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

2. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

3. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

4. Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito (AQ), Italy

5. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

6. Department of Pediatrics, Cinquefrondi (RC), Italy

7. Pediatrics Clinic, ASST-Spedali Civili of Brescia, Brescia, Italy

Abstract

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

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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