Novel non-contiguous exon duplication in choroideremia
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2018-01-01
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Clinical Genetics
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WILEY
Melbourne Authors
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Ophthalmology (Eye & Ear Hospital)
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Journal Article
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Edwards, T. L., Williams, J., Patrício, M. I., Simunovic, M. P., Shanks, M., Clouston, P. & MacLaren, R. E. (2018). Novel non-contiguous exon duplication in choroideremia. Clinical Genetics, 93 (1), pp.144-148. https://doi.org/10.1111/cge.13021.
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Abstract
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. Here, we describe a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imbalance consists of 2 non-contiguous duplications (exons 1-2 and 9-12). Further characterization suggests the generation of 2 independent CHM transcriptional units, one of which may produce a deleted form of the Rab escort protein 1 protein. Expression of such a type of aberrant protein in photoreceptors may have important implications when considering gene therapy for this disorder.