Bardet-Biedl syndrome (BBS) clinically presents with retinal degeneration, limb abnormalities (polydactyly, brachydactyly), obesity (hyperphagia), developmental delay, reproductive anomalies and renal/ urinary tract abnormalities that may lead to renal failure as cardinal features. There is a broad spectrum of additional clinical symptoms accompanying the above mentioned features (e.g. neurological abnormalities, hearing problems, dental anomalies, cardiac anomalies and diabetes mellitus) that are reported in some patients with BBS. The reported prevalence of BBS varies considerably regionally between 1:13500 (Kuwait, Newfoundland) and 1:160000 (northern Europe population) [1;2].

BBS is a mostly autosomal recessive inherited genetic disease. 18 BBS genes are know so far, most of the genes encode for proteins in the basal body of primary ciliae [3]. Additional modifiers are reported in several cases, that addtionally complicate the path of heredity. [4-7].

Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Originally considered to be redundant, research over the past years describe them as evolutionarily conserved organelles, that play an decisive role in mammalian development. They are located at cell surfaces and play a significant role in whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and retinal degeneration.

Epidemiologic studies on BBS including a high number of patients are rare, mostly emphasizing on adults with BBS. Knowledge about childhood, especially in the first years of life, is rudimentary, more frequently presented in small-scale cases. Apart from observing the occurrence and development of main cardinal features of BBS information about growth, onset of puberty, psychomotor development is not observed systematically.


known genes for BBS
Disease OMIM Phenotype Nr Gene OMIM – Gene number alternative Phenotype + OMIM Phenotype Nr
1 BBS1 209900 BBS1 209901
2 BBS2 615981 BBS2 606151 Retinitis pigmentosa 74 616562
3 BBS3 600151 ARL6 608845 Retinitis pigmentosa 55 613575
4 BBS4 615982 BBS4 600374
5 BBS5 615983 BBS5 603650
6 BBS6 605231 MKKS 604896 McKusick-Kaufman syndrome 236700
7 BBS7 615984 BBS7 607590
8 BBS8 615985 TTC8 608132 Retinitis pigmentosa 51 613464
9 BBS9 615986 PTHB1 607968
10 BBS10 615987 BBS10 610148
11 BBS11 615988 TRIM32 602290
12 BBS12 615989 BBS12 610683
13 BBS13 615990 MKS1 609883 JBTS28 617121
MKS1 249000
14 BBS14 615991 CEP290 610142 BBS14 615991
JBTS5 610188
LCA10 611755
MKS4 611134
SLSN6 610189
15 BBS15 615992 WDPCP 613580 BBS15 615992
16 BBS16 615993 SDCCAG8 613524 SLSN7 613615
17 BBS17 615994 LZTFL1 606568
18 BBS18 615995 BBIP1 613605
19 BBS19 615996 IFT27 615870
20 BBS20 617119 IFT74 608040
21 BBS21 617406 C8orf37 614477 Retinitis pigmentosa 64 614500



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  • 2 Moore SJ, Green JS, Fan Y et al: Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 2005; 132: 352–360.
  • 3 Zaghloul NA, Katsanis N: Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009; 119: 428–437.
  • 4 Katsanis N, Ansley SJ, Badano JL et al: Triallelic inheritance in Bardet–Biedl syndrome, a Mendelian recessive disorder. Science 2001; 293: 2256–2259.
  • 5 Eichers ER, Lewis RA, Katsanis N, Lupski JR: Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Ann Med 2004; 36: 262–272.
  • 6 Beales PL, Badano JL, Ross AJ et al: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet 2003; 72: 1187–1199.
  • 7 Badano JL, Kim JC, Hoskins BE et al: Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 2003; 12: 1651–1659.
  • 8 Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones.
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