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Article

Novel CHM mutations identified in Chinese families with Choroideremia.

Scientific reports - 14 Oct 2016

Cai Xue-Bi, Huang Xiu-Feng, Tong Yi, Lu Qin-Kang, Jin Zi-Bing

Abstract excerpt

Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular region. It is caused by mutations in the ubiquitously expressed CHM gene, which lead to the absence of the Rab escort protein 1 (REP-1), resulting in prenylation deficiency. Typical fundus appearances for choroideremia were found in 3 probands from three...

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Source

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Identifiers

PMID: 27739455
DOI: 10.1038/srep35360
PMCID: PMC5064415

Genes

CHM
TES

Variants

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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Novel CHM mutations identified in Chinese families with Choroideremia.PMID 27739455Read ↗

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Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.Semantic proximity Read ↗

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

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.Semantic proximity Read ↗

Choroideremia: molecular mechanisms and therapies.Semantic proximity Read ↗

Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.Semantic proximity Read ↗

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.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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