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Article

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Human molecular genetics - 15 Sept 2017

Torriano Simona, Erkilic Nejla, Faugère Valérie, Damodar Krishna, Hamel Christian P, Roux Anne-Francoise, Kalatzis Vasiliki

Abstract excerpt

Choroideremia (CHM) is an inherited retinal dystrophy characterised by progressive degeneration of photoreceptors, retinal pigment epithelium (RPE) and underlying choroid. It is caused by loss-of-function mutations in CHM, which has an X-linked inheritance, and is thus an ideal candidate for gene replacement strategies. CHM encodes REP1, which plays a key role in the prenylation of Rab GTPases. We recently showed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28911202
DOI: 10.1093/hmg/ddx244

Genes

CHM
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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