Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics-Reference-Cited by-同舟云学术

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

Published:2022-12-05 Issue:01 Volume:21 Page:033-040
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

Amore Greta¹,Spoto Giulia¹,Scuderi Anna¹,Prato Adriana¹,Dicanio Daniela¹,Nicotera Antonio¹,Farello Giovanni²,Chimenz Roberto³^ORCID,Ceravolo Ida⁴,Salpietro Vincenzo⁵,Gitto Eloisa⁶,Ceravolo Giorgia⁷,Iapadre Giulia⁵,Rosa Gabriella Di¹^ORCID,Pironti Erica⁸

Affiliation:

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

2. Pediatric Clinic–Department of Life, Health and Environmental Sciences–Piazzale Salvatore Tommasi 1, Coppito (AQ), Italy

3. Faculty of Medicine and Surgery, University of Messina, Messina, Italy

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

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

6. Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

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

8. Department of Woman-Child, Unit of Child Neurology and Psychiatry, Ospedali Riuniti, University of Foggia, Foggia, Italy

Abstract

AbstractBardet–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.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1759534.pdf

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