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Article

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.

Molecular vision - 1 Feb 2010

Pereiro Ines, Valverde Diana, Piñeiro-Gallego Teresa, Baiget Montserrat, Borrego Salud, Ayuso Carmen, Searby Charles, Nishimura Darryl

Abstract excerpt

PURPOSE: Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare multi-organ disorder in which BBS patients manifest a variable phenotype that includes retinal dystrophy, polydactyly, mental delay, obesity, and also reproductive tract and renal abnormalities. Mutations in 14 genes (BBS1-BBS14) are found in 70% of the patients, indicating that additional mutations in known and new BBS genes remain to be identified....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20142850
PMCID: PMC2817015

Genes

BBS1
BBS12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.PMID 20142850Read ↗

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

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

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

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl SyndromeSemantic proximity Read ↗

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

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.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 ↗

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.Semantic proximity Read ↗

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