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

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

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