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Article

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

American journal of medical genetics. Part A - 15 Sept 2005

Nakane Takaya, Biesecker Leslie G

Abstract excerpt

It has been hypothesized that two mutations in one gene are not sufficient and that three mutations between two genes are required for penetrance in some cases of Bardet-Biedl syndrome (the so-called "triallelic inheritance" model). McKusick-Kaufman syndrome (MKS) is allelic to one form of Bardet-Biedl syndrome (BBS). We describe an Amish family with MKS, where three children were affected with homozygous MKKS...

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Source

Identifiers

PMID: 16104012
DOI: 10.1002/ajmg.a.30593

Genes

MKKS
BBS1
BBS2
BBS4
BBS5
BBS7

Variants

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.PMID 16104012Read ↗

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

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 ↗

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 ↗

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

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

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

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

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

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.Semantic proximity Read ↗

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

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

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