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Journal of Pediatric Neurology 2023; 21(01): 033-040
DOI: 10.1055/s-0042-1759534
Review Article

Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics

Greta Amore
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy
,
Giulia Spoto
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy
,
Anna Scuderi
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy
,
Adriana Prato
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy
,
Daniela Dicanio
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy
,
Antonio Nicotera
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy
,
Giovanni Farello
2   Pediatric Clinic–Department of Life, Health and Environmental Sciences–Piazzale Salvatore Tommasi 1, Coppito (AQ), Italy
,
Roberto Chimenz 
3   Faculty of Medicine and Surgery, University of Messina, Messina, Italy
,
Ida Ceravolo
4   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Vincenzo Salpietro
5   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Eloisa Gitto
6   Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Giorgia Ceravolo
7   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Pediatric Emergency, University of Messina, Messina, Italy
,
Giulia Iapadre
5   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Gabriella Di Rosa 
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy
,
Erica Pironti
8   Department of Woman-Child, Unit of Child Neurology and Psychiatry, Ospedali Riuniti, University of Foggia, Foggia, Italy
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Abstract

Bardet–Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. At least 21 different genes have been identified, all involved into primary cilium structure or function. To date, genotype–phenotype correlation is still poor.

Keywords

Bardet–Biedl syndrome - ciliopathies - clinical features - BBS genes

Author Contributions

Conceptualization: G. A., G.S.


Investigation: A. S., A. P., D. D.


Resources: A. N.


Data curation: G. F., I. C.


Writing - original draft preparation: V. S., E. G.


Writing - review and editing: G. C., G. I.


Supervision: G. D. R., E. P., R.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.




Publication History

Received: 23 August 2022

Accepted: 27 October 2022

Article published online:
05 December 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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