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Article

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

American journal of human genetics - 1 Feb 2003

Mykytyn Kirk, Nishimura Darryl Y, Searby Charles C, Beck Gretel, Bugge Kevin, Haines Heidi L, Cornier Alberto S, Cox Gerald F, Fulton Anne B, Carmi Rivka, Iannaccone Alessandro, Jacobson Samuel G, Weleber Richard G, Wright Alan F, Riise Ruth, Hennekam Raoul C M, Lüleci Güven, Berker-Karauzum Sibel, Biesecker Leslie G, Stone Edwin M, Sheffield Val C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31...

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Source

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Identifiers

PMID: 12524598
DOI: 10.1086/346172
PMCID: PMC379234

Genes

BBS1
BBS2
BBS4
BBS5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).PMID 12524598Read ↗

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

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

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

Genetics of human Bardet-Biedl syndrome, an updates.Semantic proximity Read ↗

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Semantic proximity Read ↗

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.Semantic proximity Read ↗

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.Semantic proximity Read ↗

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.Semantic proximity Read ↗

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

Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.Semantic proximity Read ↗

The major gene for Bardet-Biedl syndrome is BBS1.Semantic proximity Read ↗

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.Semantic proximity Read ↗

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