The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. In Mar 28， 2017, Thomas L Edwards and others published an article in << Clinical Genetics >> which title is “Novel non-contiguous exon duplication in choroideremia”, described a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imbalance consists of two non-contiguous duplications (exons 1–2, and 9–12). Further characterization suggests the generation of two independent CHM transcriptional units, one of which may produce a deleted form of the REP1 protein. Expression of such a type of aberrant protein in photoreceptors may have important implications when considering gene therapy for this disorder.
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