BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an autosomal recessive trait, under which premise six independent BBS loci ( BBS1–BBS6) have been mapped i...

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Bibliographic Details
Published in:American journal of human genetics 2002-07, Vol.71 (1), p.22-29
Main Authors: Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
Format: Article
Language:English
Subjects:
Alleles
Amino Acid Sequence
Bardet-Biedl Syndrome - genetics
Biological and medical sciences
Cohort Studies
Complex syndromes
Conserved Sequence
Evolution, Molecular
Female
Genes, Recessive
Genotype
Humans
Male
Medical genetics
Medical sciences
Microtubule-Associated Proteins
Molecular Sequence Data
Pedigree
Phenotype
Proteins - genetics
Sequence Homology, Amino Acid
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Summary:Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an autosomal recessive trait, under which premise six independent BBS loci ( BBS1–BBS6) have been mapped in the human genome. However, extended mutational analyses of BBS2 and BBS6, the first two BBS genes cloned, 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. We evaluated the spectrum of mutations in the recently identified BBS4 gene with a combination of haplotype analysis and mutation screening on a multiethnic cohort of 177 families. Consistent with predictions from previous genetic analyses, our data suggest that mutations in BBS4 contribute to BBS in
ISSN:0002-9297
1537-6605
DOI:10.1086/341031