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Article

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Journal of medical genetics - 1 May 2022

Fadaie Zeinab, Whelan Laura, Dockery Adrian, Li Catherina H Z, van den Born L Ingeborgh, Hoyng Carel B, Gilissen Christian, Corominas Jordi, Rowlands Charlie, Megaw Roly, Lampe Anne K, Cremers Frans P M, Farrar Gwyneth Jane, Ellingford Jamie M, Kenna Paul F, Roosing Susanne

Abstract excerpt

BACKGROUND: Inherited retinal diseases (IRDs) can be caused by variants in >270 genes. The Bardet-Biedl syndrome 1 (BBS1) gene is one of these genes and may be associated with syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). Here, we identified a branchpoint variant in BBS1 and assessed its pathogenicity by in vitro functional analysis. METHODS: Whole genome sequencing was performed for...

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Identifiers

PMID: 33910932
DOI: 10.1136/jmedgenet-2020-107626

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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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