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Article

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

American journal of human genetics - 14 May 2010

Riazuddin S Amer, Iqbal Muhammad, Wang Yue, Masuda Tomohiro, Chen Yuhng, Bowne Sara, Sullivan Lori S, Waseem Naushin H, Bhattacharya Shomi, Daiger Stephen P, Zhang Kang, Khan Shaheen N, Riazuddin Sheikh, Hejtmancik J Fielding, Sieving Paul A, Zack Donald J, Katsanis Nicholas

Abstract excerpt

Tissue-specific alternative splicing is an important mechanism for providing spatiotemporal protein diversity. Here we show that an in-frame splice mutation in BBS8, one of the genes involved in pleiotropic Bardet-Biedl syndrome (BBS), is sufficient to cause nonsyndromic retinitis pigmentosa (RP). A genome-wide scan of a consanguineous RP pedigree mapped the trait to a 5.6 Mb region; subsequent systematic...

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Identifiers

PMID: 20451172
DOI: 10.1016/j.ajhg.2010.04.001
PMCID: PMC2869005

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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.

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A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.PMID 20451172Read ↗

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