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Article

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

Human genetics - 1 Jun 2002

Slavotinek A M, Searby C, Al-Gazali L, Hennekam R C M, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker L G

Abstract excerpt

McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies. Bardet-Biedl syndrome is genetically heterogeneous with three cloned genes ( BBS2, BBS4, and MKKS) and at least three other known loci ( BBS1, BBS3, and BBS5). Both...

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Source

Identifiers

PMID: 12107442
DOI: 10.1007/s00439-002-0733-3

Genes

MKKS
BBS2
BBS1
BBS4
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

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.PMID 12107442Read ↗

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

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

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.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 ↗

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.Semantic proximity Read ↗

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

[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome].Semantic proximity Read ↗

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.Semantic proximity Read ↗

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

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.Semantic proximity Read ↗

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.Semantic proximity Read ↗

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

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