Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
Loading...
Date
2016-09
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
Bardet–Biedl syndrome, Bardet–Biedl syndrome genes, ciliopathy, Indian population
Citation
Priya Sathya, Nampoothiri Sheela, Sen Parveen, Sripriya S. Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian Journal of Ophthalmology. 2016 Sept; 64(9): 620-627.