2016/01/14 by S.A. Khan, N. Muhammad, M.A. Khan +7
Biochemistry, Genetics and Molecular Biology · #Genetic Syndromes and Imprinting #Genetic and Kidney Cyst Diseases #Hedgehog Signaling Pathway Studies
paper · doi:10.1111/cge.12737
openalex publication_date 2016/01/14 · crossref created 2016/01/14 · crossref issued 2016/02/09 · crossref published 2016/02/09 · crossref published-online 2016/02/09 · crossref published-print 2016/07/01 · crossref deposited 2024/06/13 · openalex created_date 2025/10/10 · crossref indexed 2026/07/30 · openalex updated_date 2026/07/30
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 of BBS, 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. The BBS displays extensive genetic heterogeneity. To date, 19 genes have been mapped on different chromosomes causing BBS phenotypes having varied mutational load of each BBS gene. In this review, we have discussed clinical spectrum and genetics of BBS. This report presents a concise overview of the current knowledge on clinical data and its molecular genetics progress upto date.