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Article

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.

Investigative ophthalmology & visual science - 1 Nov 2016

Simunovic Matthew P, Jolly Jasleen K, Xue Kanmin, Edwards Thomas L, Groppe Markus, Downes Susan M, MacLaren Robert E

Abstract excerpt

PURPOSE: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. METHODS: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic evaluation consisted of clinical examination, including visual acuity and residual retinal area by fundus...

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Source

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Identifiers

PMID: 27820636
DOI: 10.1167/iovs.16-20230
PMCID: PMC5102569

Genes

CHM

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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Research trail→

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The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.PMID 27820636Read ↗

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.Semantic proximity Read ↗

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

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapySemantic proximity Read ↗

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

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.Semantic proximity Read ↗

[Genetic diagnosis of 3 families with choroideremia].Semantic proximity Read ↗

CHOROIDEREMIASemantic proximity Read ↗

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.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 ↗

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

Genetic analysis of choroideremia families in the Australian population.Semantic proximity Read ↗

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

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