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Article

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

Molecular genetics & genomic medicine - 1 Nov 2020

Fioretti Tiziana, Ungari Silvana, Savarese Maria, Cattaneo Fabio, Pirozzi Enza, Esposito Gabriella

Abstract excerpt

BACKGROUND: Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X-linked eye disorder arising from sequence alteration of the CHM gene. Herein we report an exonic frameshift variant associated...

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Share to Adaptor Proteins, Signal Transducing
Share to Choroideremia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Enhancer Elements, Genetic

Share to Frameshift Mutation

Share to Phenotype

Share to Protein Domains

Share to RNA, Messenger

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 32949230
DOI: 10.1002/mgg3.1490
PMCID: PMC7667377

Genes

CHM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.PMID 32949230Read ↗

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.Semantic proximity Read ↗

Aberrant splicing of the CHM gene is a significant cause of choroideremiaSemantic proximity Read ↗

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A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.Semantic proximity Read ↗

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.Semantic proximity Read ↗

CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1.Semantic proximity Read ↗

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.Semantic proximity Read ↗

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Single-base substitutions in the CHM promoter as a cause of choroideremia.Semantic proximity Read ↗

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.Semantic proximity Read ↗

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Cloning and characterization of the human choroideremia geneSemantic proximity Read ↗

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