Genetics of human Bardet–Biedl syndrome, an updates

S. A. Khan, N. Muhammad, M. A. Khan, A. Kamal, Z. U. Rehman, S. Khan

Research output: Contribution to journalReview articlepeer-review

117 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)3-15
Number of pages13
JournalClinical Genetics
Issue number1
Publication statusPublished - 1 Jul 2016
Externally publishedYes


  • Bardet–Biedl syndrome
  • clinical spectrum
  • disease-causing mutations
  • genes


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