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Article

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Investigative ophthalmology & visual science - 18 Jul 2011

Chen Jianjun, Smaoui Nizar, Hammer Monia Ben Hamed, Jiao Xiaodong, Riazuddin S Amer, Harper Shyana, Katsanis Nicholas, Riazuddin Sheikh, Chaabouni Habiba, Berson Eliot L, Hejtmancik J Fielding

Abstract excerpt

PURPOSE: Bardet-Biedl syndrome (BBS) is genetically heterogeneous with 15 BBS genes currently identified, accounting for approximately 70% of cases. The aim of our study was to define further the spectrum of BBS mutations in a cohort of 44 European-derived American, 8 Tunisian, 1 Arabic, and 2 Pakistani families (55 families in total) with BBS. METHODS: A total of 142 exons of the first 12 BBS-causing genes were...

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Source

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Identifiers

PMID: 21642631
DOI: 10.1167/iovs.11-7554
PMCID: PMC3176075

Genes

NPHP3
TMEM67
BBS4

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.

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