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Article

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Nature genetics - 1 Jun 2001

Mykytyn K, Braun T, Carmi R, Haider N B, Searby C C, Shastri M, Beck G, Wright A F, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman S W, Duhl D M, Jacobson S G, Casavant T, Stone E M, Sheffield V C

Abstract excerpt

Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31...

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Source

Identifiers

PMID: 11381270
DOI: 10.1038/88925

Genes

BBS2
BBS4
MKKS
BBS1
BBS5

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.PMID 11381270Read ↗

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

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with 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 ↗

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

Mutations in MKKS cause Bardet-Biedl syndrome.Semantic proximity Read ↗

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

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

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.Semantic proximity Read ↗

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

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.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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