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Journal of Pediatric Neurology 2023; 21(01): 041-043
DOI: 10.1055/s-0042-1759515
Review Article

Ciliopathies: Genetic Counseling

Caterina Cuppari
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Annamaria Salpietro
2   Pediatrics Clinic, ASST-Spedali Civili of Brescia, Brescia, Italy
,
Ida Ceravolo
3   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Giulia Iapadre
4   Department of Pediatrics, University of L'Aquila, Coppito, Italy
,
Monica Fusco
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Alessia Sallemi
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Alessio Mancuso
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Giovanni Farello
5   Pediatric Clinic, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito (AQ), Italy
,
Maria Domenica Ceravolo
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
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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.

Keywords

ciliopathies - developmental delay - autosomal recessive inheritance

Authors' Contributions

Conceptualization: A.S., C.C.; Investigation: I.C., E.G.; Resources: M.F.; Data curation: A.S., G.I.; Writing-original draft preparation: G.F.; Writing review and editing: R.C., A.M.; Supervision: M.D.C.

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:
01. Dezember 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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