title: Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
abstract: Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various primary and secondary clinical manifestations, and shows autosomal recessive inheritance and highly prevalent in inbred/consanguineous populations. The disease mapped to at least twenty different genes (BBS1-BBS20), follow oligogenic inheritance pattern. BBS proteins localizes to the centerosome and regulates the biogenesis and functions of the cilia. In BBS, the functioning of various systemic organs (with ciliated cells) gets deranged and results in systemic manifestations. Certain components of the disease (such as obesity, diabetes, and renal problems) when noticed earlier offer a disease management benefit to the patients. However, the awareness of the disease is comparatively low and most often noticed only after severe vision loss in patients, which is usually in the first decade of the patient's age. In the current review, we have provided the recent updates retrieved from various types of scientific literature through journals, on the genetics, its molecular relevance, and the clinical outcome in BBS. The review in nutshell would provide the basic awareness of the disease that will have an impact in disease management and counseling benefits to the patients and their families.
authors.affiliation: SNONGC Department of Genetics and Molecular Biology, Kamal Nayan Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, Tamil Nadu; School of Chemical and Biotechnology, SASTRA University, Thanjavur, Tamil Nadu, India.
authors.forename: Sathya
authors.initials: S
authors.lastname: Priya
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.affiliation: Department of Vitreoretina Clinic, Medical Research Foundation, Chennai, Tamil Nadu, India.
authors.forename: Parveen
authors.initials: P
authors.lastname: Sen
authors.affiliation: SNONGC Department of Genetics and Molecular Biology, Kamal Nayan Institute for Research in Vision and Ophthalmology, Vision Research Foundation, Chennai, Tamil Nadu, India.
authors.forename: S
authors.initials: S
authors.lastname: Sripriya
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D019468:Disease Management; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation