Genetics of human Bardet–Biedl syndrome, an updates

Bardet–Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. In several cases ofBBS, few other features such as metabolic defects, cardiovascular anomalies, speech deficits, hearing loss, hypertension, hepatic defects and high incidence of diabetes mellitus have been reported as well. TheBBSdisplays extensive genetic heterogeneity. To date, 19 genes have been mapped on different chromosomes causingBBSphenotypes having varied mutational load of eachBBSgene. In this review, we have discussed clinical spectrum and genetics ofBBS. This report presents a concise overview of the current knowledge on clinical data and its molecular genetics progress upto date.