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The Bardet-Biedl Syndrome 

The Bardet-Biedl Syndrome
Chapter:
The Bardet-Biedl Syndrome
Author(s):

Val C. Sheffield

, Qihong Zhang

, Elise Heon

, Arlene V. Drack

, Edwin M. Stone

, and Rivka Carmi

DOI:
10.1093/med/9780199934522.003.0021
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date: 27 February 2021

Bardet–Biedl syndrome (BBS) (OMIM 209900) is a heterogeneous autosomal recessive disorder characterized by clinical findings that include obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and learning disabilities. BBS is genetically heterogeneous. Seventeen genes are associated with BBS with more BBS genes yet to be identified. Studies of animal models and cell lines demonstrate that BBS proteins are important for cilia function and BBS belongs to a group of diseases termed ciliopathies that share a common pathophysiology involving cilia function. Seven of the known BBS proteins form a complex (the BBSome), which transports membrane proteins to the cilia membrane. Mis-trafficking of membrane proteins to or from membranes is involved in BBS pathology.

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