Background: Bardet-Biedl Syndrome (BBS) is a rare autosomal ciliopathy disorder caused by mutations in genes encoding the proteins localized in primary cilia or basal body complex resulting in derangement of functions of various systemic organs containing cilia. The syndrome is characterized by classic phenotype features. Renal failure is a major cause of morbidity and mortality in these patients and early detection offers disease management benefit.
Case Presentation: We report for the first time in India, a case of BBS in advanced renal failure chronic kidney disease due to mutation in BBS12 gene, confirmed by next-generation sequencing. We also present clinical data, molecular genetics, and treatment of BBS.
Conclusion: Early diagnosis will help in the management of renal failure, thereby progression of the disease may be retarded. Further genetic mutations in all BBS genes can be studied by routine genotyping of all patients and followed up clinically.
Key words: Bardet-Biedl syndrome, BBS gene, chronic kidney disease.