title: Bardet-Biedl syndrome: Is it only cilia dysfunction?
abstract: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset defects. From the analysis of the mutational burden in patients to the functional characterization of the BBS proteins, this syndrome has become a model for both understanding oligogenic patterns of inheritance and the biology of a particular cellular organelle: the primary cilium. Here we briefly review the genetics of BBS to then focus on the function of the BBS proteins, not only in the context of the cilium but also highlighting potential extra-ciliary roles that could be relevant to the etiology of the disorder. Finally, we provide an overview of how the study of this rare syndrome has contributed to the understanding of cilia biology and how this knowledge has informed on the cellular basis of different clinical manifestations that characterize BBS and the ciliopathies.
authors.affiliation: Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, Montevideo CP11400, Uruguay.
authors.forename: Rossina
authors.initials: R
authors.lastname: Novas
authors.affiliation: Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, Montevideo CP11400, Uruguay.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Cardenas-Rodriguez
authors.affiliation: Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, Montevideo CP11400, Uruguay; Departamento de Histología y Embriología, Facultad de Medicina, Universidad de la República, Montevideo, Gral. Flores 2125, Montevideo CP11800, Uruguay.
authors.forename: Florencia
authors.initials: F
authors.lastname: Irigoín
authors.affiliation: Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, Montevideo CP11400, Uruguay. Electronic address: jbadano@pasteur.edu.uy.
authors.forename: Jose L
authors.initials: JL
authors.lastname: Badano
mesh_terms: D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002923:Cilia / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D010641:Phenotype; D011506:Proteins / Q000378:metabolism
chemical_list: D011506:Proteins
keywords: Bardet–Biedl syndrome; Cilia; Ciliopathies