Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

doi:10.1002/ajmg.a.70095

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Article

Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

American journal of medical genetics. Part A - 1 Jun 2026

Niri Farshad, Radziwon Alina, Mah Rachel, Sankila Eeva-Marja, Wang Nan-Kai, Hume Stacey, MacDonald Ian M

Abstract excerpt

To investigate the molecular cause of choroideremia in two unrelated patients with no detectable mutations in the CHM gene. Two unrelated patients were examined by an ophthalmologist to obtain a clinical diagnosis. Patient and control cells were cultured and used as a source of DNA, RNA, and protein for analysis. Exonic regions of CHM were Sanger sequenced and copy number analysis was performed by multiplex...

Topics

Humans
Male
Adaptor Proteins, Signal Transducing
Base Sequence
Choroideremia
DNA Mutational Analysis
Mutation
Middle Aged
Aged

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Open in PubMed

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PMID: 41714298
DOI: 10.1002/ajmg.a.70095

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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