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Review
. 2023 Jan 30:19:115-132.
doi: 10.2147/TCRM.S338653. eCollection 2023.

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Andrea Melluso  1 , Floriana Secondulfo  1 , Giovanna Capolongo  1 , Giovambattista Capasso  1   2 , Miriam Zacchia  1
Affiliations
Review

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Andrea Melluso et al. Ther Clin Risk Manag. .

Abstract

The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders; moreover, mutations in cilia-related genes can cause different clinical ciliopathy entities. Besides the best-known clinical features, as retinal degeneration, learning disabilities, polydactyly, obesity and renal defects, several additional clinical signs have been reported in BBS, expanding our understanding of the complexity of its clinical spectrum. The present review aims to describe the current knowledge of BBS i) pathophysiology, ii) clinical manifestations, highlighting both the most common and the less described features, iii) current and future perspective for treatment.

Keywords: Bardet-Biedl syndrome; chronic kidney disease; ciliopathies; genetics; metabolic disorders.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Diagram of Bardet Biedl syndrome (BBS) proteins and their relationship with the primary cilium. The BBSome complex, constituted by BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP1 (represented on the left), is assembled with the assistance of chaperonin-like proteins (BBS6, BBS10 and BBS12). The link between BBSome and BBS3 GTPase protein allows the intraflagellar transport. On the other hand, the link to BBS17 keeps the BBSome at basal body level. IFT-A complex mediates retrograde trafficking from the tip of cilia to the base, powered by dynein. IFT-B complex (which includes BBS19 and BBS20, not shown in figure) mediates anterograde trafficking, powered by kinesin. BBS11, as shown on the right, favors protein ubiquitination.
Figure 2
Figure 2
Major clinical features of BBS patients. On the left side diagnostic clinical features are listed (primary features outlined with rectangles). On the right side, less described clinical traits.
See this image and copyright information in PMC

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