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Article

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Nature genetics - 1 Sept 2000

Katsanis N, Beales P L, Woods M O, Lewis R A, Green J S, Parfrey P S, Ansley S J, Davidson W S, Lupski J R

Abstract excerpt

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder predominantly characterized by obesity, retinal dystrophy, polydactyly, learning difficulties, hypogenitalism and renal malformations, with secondary features that include diabetes mellitus, endocrinological dysfunction and behavioural abnormalities. Despite an initial expectation of genetic homogeneity due to relative clinical uniformity, five BBS...

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Source

Identifiers

PMID: 10973251
DOI: 10.1038/79201

Genes

MKKS
BBS1

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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Click a neighbor to travelStep 1 · 12 closest

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.PMID 10973251Read ↗

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

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

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

Kidney failure in Bardet-Biedl syndrome.Semantic proximity Read ↗

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.Semantic proximity Read ↗

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

Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.Semantic proximity Read ↗

Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.Semantic proximity Read ↗

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.Semantic proximity Read ↗

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.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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