Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

doi:10.1038/sj.ejhg.5201372

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Article

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

European journal of human genetics : EJHG - 1 May 2005

Hichri Haifa, Stoetzel Corinne, Laurier Virginie, Caron Solenne, Sigaudy Sabine, Sarda Pierre, Hamel Christian, Martin-Coignard Dominique, Gilles Morin, Leheup Bruno, Holder Mureille, Kaplan Josseline, Bitoun Pierre, Lacombe Didier, Verloes Alain, Bonneau Dominique, Perrin-Schmitt Fabienne, Brandt Christian, Besancon Anne-Françoise, Mandel Jean-Louis, Cossée Mireille, Dollfus Hélène

Abstract excerpt

The phenotype of Bardet-Biedl syndrome (BBS) is defined by the association of retinitis pigmentosa, obesity, polydactyly, hypogenitalism, renal disease and cognitive impairement. The significant genetic heterogeneity of this condition is supported by the identification, to date, of eight genes (BBS1-8) implied with cilia assembly or function. Triallelic inheritance has recently been suggested on the basis of the...

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Identifiers

PMID: 15770229
DOI: 10.1038/sj.ejhg.5201372

Genes

BBS1
BBS2
BBS4
BBS7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.PMID 15770229Read ↗

In search of triallelism in Bardet-Biedl syndrome.Semantic proximity Read ↗

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.Semantic proximity Read ↗

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.Semantic proximity Read ↗

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

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

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.Semantic proximity Read ↗

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.Semantic proximity Read ↗

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

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Semantic proximity Read ↗

Bardet-Biedl syndrome: A rare genetic diseaseSemantic proximity Read ↗

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.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 ↗

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