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

Abstract

Joubert 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.

Keywords

ciliopathies - mutations - molecular diagnosis

Authors' Contributions

M.A. and G.F. did the conceptualization. I.C. and A.C. did the investigation. G.I. and S.G. contributed toward resources. A.S. and A.M. contributed toward data curation. EG wrote and prepared original draft. G.I. wrote and edited the review. C.C. did the supervision.

All authors have read and agreed to the published version of the manuscript.

Data Availability Statement

The data presented in this study are available on request from the corresponding author.

Publikationsverlauf

Eingereicht: 22. August 2022

Angenommen: 27. Oktober 2022

Artikel online veröffentlicht:
05. Januar 2023

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