Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

doi:10.1086/510256

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Article

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

American journal of human genetics - 1 Jan 2007

Stoetzel Corinne, Muller Jean, Laurier Virginie, Davis Erica E, Zaghloul Norann A, Vicaire Serge, Jacquelin Cecile, Plewniak Frederic, Leitch Carmen C, Sarda Pierre, Hamel Christian, de Ravel Thomy J L, Lewis Richard Alan, Friederich Evelyne, Thibault Christelle, Danse Jean-Marc, Verloes Alain, Bonneau Dominique, Katsanis Nicholas, Poch Olivier, Mandel Jean-Louis, Dollfus Helene

Abstract excerpt

Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ~70% of affected families. We have combined single-nucleotide-polymorphism array homozygosity mapping with in silico analysis...

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Identifiers

PMID: 17160889
DOI: 10.1086/510256
PMCID: PMC1785304

Genes

BBS12
BBS10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.PMID 17160889Read ↗

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