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Bardet-Biedl Syndrome

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Abstract

Bardet-Biedl syndrome (BBS) is a human genetic disorder characterized by defects in multiple organ systems. Major symptoms of BBS include retinitis pigmentosa, obesity, polydactyly, mental retardation, genital abnormalities, and renal abnormalities. Although generally inherited in an autosomal recessive fashion, reports of intrafamilial and interfamilial variability of penetrance and expressivity in patients with BBS have suggested models of oligogenic inheritance. To date, 17 causal genes have been identified, with an increasing number of modifying loci reported. Investigations into the function and subcellular localization of the protein products of BBS genes in physiologically relevant cell and animal models suggest that the primary organellar defect in BBS is the dysfunction of the cilium, a structure that projects from the surface of most vertebrate cells. Given the diverse role of the cilium in development and homeostasis, most clinical manifestations in BBS patients can be attributed to perturbed ciliary function.

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Acknowledgments

We thank Edwin Oh for critical reading and editorship of this chapter. This work was supported by a grant from the National Institute of Child Health and Human Development (HD042601) and grants from the National Institute of Diabetes and Digestive and Kidney Disorders (DK072301 and DK075972). NK is a distinguished Brumley Professor.

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  1. Center for Human Disease Modeling, Duke University School of Medicine, Durham, NC, USA

    Yangfan P. Liu PhD & Nicholas Katsanis PhD

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  1. Yangfan P. Liu PhD
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Correspondence to Nicholas Katsanis PhD .

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  1. John Gammill Professor in Polycystic Kidney Disease, Chief, Section of Nephrology and Hypertension, Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Benjamin D. Cowley, Jr.

  2. Federal Express Chair of Excellence, Chief, Division of Nephrology, Department of Pediatrics, Director, Tuberous Sclerosis Center of Excellence at Le Bonheur Children’s Hospital, Medical Director, Nephrology St. Jude Children’s Research Hospital, University of Tennessee Health Science Center, Children’s Foundation Research Center, Memphis, Tennessee, USA

    John J. Bissler

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Liu, Y.P., Katsanis, N. (2018). Bardet-Biedl Syndrome. In: Cowley, Jr., B., Bissler, J. (eds) Polycystic Kidney Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-7784-0_2

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