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Article

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Molecular vision - 1 Jan 2018

Fiorentino Alessia, Yu Jing, Arno Gavin, Pontikos Nikolas, Halford Stephanie, Broadgate Suzanne, Michaelides Michel, Carss Keren J, Raymond F Lucy, Cheetham Michael E, Webster Andrew R, Downes Susan M, Hardcastle Alison J

Abstract excerpt

Purpose: Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. In this study, we performed next-generation sequencing to reveal additional arRP cases associated with ARL2BP variants. Methods: Whole-genome sequencing (WGS) or whole-exome sequencing...

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PMID: 30210231
PMCID: PMC6128700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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