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Article

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.

Investigative ophthalmology & visual science - 7 Feb 2020

da Palma Mariana Matioli, Motta Fabiana Louise, Gomes Caio Perez, Salles Mariana Vallim, Pesquero João Bosco, Sallum Juliana Maria Ferraz

Abstract excerpt

Purpose: Choroideremia is an inherited retinal degeneration caused by 280 different pathogenic variants in the CHM gene. Only one silent/synonymous variant (c.1359C>T; p.(Ser453=)) has been reported and was classified as inconclusive based on in silico analysis. This study elucidates the pathogenicity of this variant also found in a Brazilian patient. Methods: Ophthalmological examinations such as color fundus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32097478
DOI: 10.1167/iovs.61.2.38
PMCID: PMC7329626

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.PMID 32097478Read ↗

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