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Article

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Human molecular genetics - 15 Jul 2003

Badano Jose L, Kim Jun Chul, Hoskins Bethan E, Lewis Richard Alan, Ansley Stephen J, Cutler David J, Castellan Claudio, Beales Philip L, Leroux Michel R, Katsanis Nicholas

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder with substantial inter- and intrafamilial variability, that also exhibits remarkable genetic heterogeneity, with seven mapped BBS loci in the human genome. Recent data have demonstrated that BBS may be inherited either as a simple Mendelian recessive or as an oligogenic trait, since mutations at two loci are sometimes required for pathogenesis. This...

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Source

Identifiers

PMID: 12837689
DOI: 10.1093/hmg/ddg188

Genes

BBS1
BBS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.PMID 12837689Read ↗

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Semantic proximity Read ↗

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.Semantic proximity Read ↗

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.Semantic proximity Read ↗

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.Semantic proximity Read ↗

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Semantic proximity Read ↗

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).Semantic proximity Read ↗

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)Semantic proximity Read ↗

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.Semantic proximity Read ↗

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.Semantic proximity Read ↗

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.Semantic proximity Read ↗

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.Semantic proximity Read ↗

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathySemantic proximity Read ↗

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