Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

@article{Ansley2003BasalBD,
  title={Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome},
  author={Stephen J. Ansley and Jos{\'e} L. Badano and Oliver E. Blacque and Josephine Hill and Bethan E. Hoskins and Carmen C. Leitch and Jun Chul Kim and Alison J. Ross and Erica R. Eichers and Tanya M. Teslovich and Allan K. Mah and Robert C. Johnsen and John C. Cavender and Richard Alan Lewis and Michel R Leroux and Philip Beales and Nicholas Katsanis},
  journal={Nature},
  year={2003},
  volume={425},
  pages={628-633}
}
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and… Expand
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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References

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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
TLDR
Extended mutational analyses of BBS2 and BBS6 suggest that BBS exhibits a more complex pattern of inheritance, in which three mutations at two loci simultaneously are necessary and sufficient in some families to manifest the phenotype. Expand
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
TLDR
The data suggest that a complete loss of function of the MKKS product, and thus an inability to fold a range of target proteins, is responsible for the clinical manifestations of BBS. Expand
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
TLDR
It is demonstrated that BBS2L1 mutations cause BBS, thereby defining a novel locus for this syndrome, BBS7, whereas BBS3L2 has been shown independently to be BBS1, and the motif-based identification of a novel BBS locus has enabled us to define a potential functional domain that is likely to be important in the pathogenesis of this complex syndrome. Expand
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
TLDR
The identification of the gene BBS1 is reported and show that a missense mutation of this gene is a frequent cause of BBS, and data is provided showing that this common mutation is not involved in triallelic inheritance. Expand
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
TLDR
The positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4 is reported, which has no significant similarity to other chaperonins or known proteins. Expand
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
TLDR
It is proposed that BBS may be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype, and this triallelic model of disease transmission may be important in the study of both Mendelian and multifactorial disorders. Expand
Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease.
TLDR
It is proposed that the single epithelial cilium is important in the functional differentiation of polarized epithelia and that ciliary dysfunction underlies the PKD phenotype in cpk mice. Expand
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
TLDR
Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. Expand
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
TLDR
A comprehensive analysis of the spectrum, distribution, and involvement in non-Mendelian trait transmission of mutant alleles in BBS1, the most common BBS locus indicates that BBS2 and BBS6 are more likely to participate in triallelic inheritance, suggesting a variable ability of the BBS proteins to interact genetically with each other. Expand
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
TLDR
This study identified some novel clinical features of Bardet-Biedl syndrome, including neurological, speech, and language deficits, behavioural traits, facial dysmorphism, and dental anomalies, and proposes a revision of the diagnostic criteria, which may facilitate earlier diagnosis of this disorder. Expand
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