title: Genetics of human Bardet-Biedl syndrome, an updates.
abstract: 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.
authors.affiliation: Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
authors.forename: S A
authors.initials: SA
authors.lastname: Khan
authors.affiliation: Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
authors.forename: N
authors.initials: N
authors.lastname: Muhammad
authors.affiliation: Gomal Centre of Biochemistry and Biotechnology, Gomal University, Khyber Pakhtunkhwa, Pakistan.|Genomic Core Facility, Interim Translational Research Institute, Doha, Qatar.
authors.forename: M A
authors.initials: MA
authors.lastname: Khan
authors.affiliation: Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
authors.forename: A
authors.initials: A
authors.lastname: Kamal
authors.affiliation: Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Z U
authors.initials: ZU
authors.lastname: Rehman
authors.affiliation: Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Khyber Pakhtunkhwa, Pakistan.|Genomic Core Facility, Interim Translational Research Institute, Doha, Qatar.
authors.forename: S
authors.initials: S
authors.lastname: Khan
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D015870:Gene Expression; D018740:Genetic Heterogeneity; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D005810:Multigene Family; D009154:Mutation; D009765:Obesity / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020033:Protein Isoforms / Q000235:genetics; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
chemical_list: C464790:Bbs1 protein, human; D008869:Microtubule-Associated Proteins; D020033:Protein Isoforms
keywords: Bardet-Biedl syndrome; clinical spectrum; disease-causing mutations; genes