High incidence of Bardet Biedl syndrome among the Bedouin

Fårag, T I; Teebi, Ahmad S.

doi:10.1111/j.1399-0004.1989.tb03378.x

Cited by 147 publications

(81 citation statements)

References 2 publications

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“…BBS is a rare disorder with a prevalence of 1/125,000 to 1/ 175,000 in Europe and North America, the prevalence being much higher in isolated populations from Kuwait (1/17,000 among Bedouins) or Newfoundland (1/13,000) [4,5].…”

Section: Introductionmentioning

confidence: 99%

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

et al. 2011

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Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. The syndrome is genetically heterogeneous with 14 BBS genes identified to date. Since the cloning of the first gene in 2000, a combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology. Pleiotropy of ciliopathy phenotypes and complex genetic interactions between causal and modifying alleles of ciliary genes contribute to phenotypic variability. In particular, kidney disease in BBS is clinically heterogeneous, but is now recognized as a cardinal feature and a major cause of mortality in BBS.

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Section: Introductionmentioning

confidence: 99%

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

et al. 2011

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“…7 The prevalence of BBS varies markedly between populations; from 1:160 000 in northern European populations 5 to 1:13 500 and 1:17 5000, respectively, in isolated communities in Kuwait and Newfoundland, where a higher level of consanguinity prevails. 8,9 Studies on the families in Newfoundland affected with BBS revealed a minimum of six BBS loci and eight different BBS mutations and therefore the high prevalence cannot be attributed to a single founder. 10 …”

Section: Introductionmentioning

confidence: 99%

Bardet–Biedl syndrome

2012

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“…Incidence increases within populations of high consanguinity or those that are geographically isolated (Farag and Teebi, 1988;Farag and Teebi, 1989;Moore, et al, 2005). BBS is genetically heterogeneous with fourteen genes currently identified (BBS1-BBS14) (see http://www.ncbi.nlm.nih.gov/omim/).…”

Section: Introductionmentioning

confidence: 99%

BBS7andTTC8(BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

et al. 2009

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Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral backgrounds. In addition, the role of putative modifier genes on phenotype severity; NXNL1 and MGC1203 c.430C>T, was assessed. Genotype-phenotype correlation was explored in patients with identified mutations. Four novel pathogenic BBS7 changes were identified in 2/35 families (5.7%). In one family with two affected individuals with BBS7 mutations, a more severe phenotype was observed in association with a third mutation in BBS4. The overall retinal phenotype appeared more severe than that seen in patients with BBS1 mutations. This study confirms the small role of BBS7 and TTC8 in the overall mutational load of BBS patients. The variability of the ocular phenotype observed, could not be explained by the putative modifier genes; NXNL1 and MGC1203 c.430C>T.

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High incidence of Bardet Biedl syndrome among the Bedouin

Cited by 147 publications

References 2 publications

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Bardet–Biedl syndrome

BBS7andTTC8(BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

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