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Article

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.

Ophthalmic genetics - 1 Aug 2020

Jones Kaylie D, Radziwon Alina, Birch David G, MacDonald Ian M

Abstract excerpt

BACKGROUND: Choroideremia is an X-linked retinal disease characterized by progressive atrophy of the choroid and retinal pigment epithelium caused by mutations in the CHM gene. SVA (SINE-R/VNTR/Alu) elements are a type of non-autonomous retrotransposon that occasionally self-replicate, reinsert randomly into a gene, and cause disease. Intragenic SVA insertions have been reported as the mechanism underlying a...

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Identifiers

PMID: 32441177
DOI: 10.1080/13816810.2020.1768557
PMCID: PMC7375010

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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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