Book chapter
The Bardet-Biedl Syndrome
Epstein's Inborn Errors of Development
Oxford Monographs on Medical Genetics, Oxford University Press
06/01/2016
DOI: 10.1093/med/9780199934522.003.0021
Abstract
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. Mistrafficking of membrane proteins to or from membranes is involved in BBS pathology.
Details
- Title: Subtitle
- The Bardet-Biedl Syndrome
- Creators
- Val C SheffieldQihong ZhangElise HeonArlene V DrackEdwin M StoneRivka Carmi
- Resource Type
- Book chapter
- Publication Details
- Epstein's Inborn Errors of Development
- Series
- Oxford Monographs on Medical Genetics
- DOI
- 10.1093/med/9780199934522.003.0021
- Publisher
- Oxford University Press
- Alternative title
- A Ciliary Functions: Genesis, Transport, and Reabsorbtion
- Language
- English
- Date published
- 06/01/2016
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979940302771
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