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Camiel J F Boon, Tanya Tolmachova, Alun R Barnard, Susan M Downes, Markus Groppe, Andrew Webster, Robert E MacLaren; Analysis of REP1 protein expression in blood leukocytes in typical choroideremia patients without an identifiable REP1 gene mutation. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3298.
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© ARVO (1962-2015); The Authors (2016-present)
To analyse expression of Rab Escort Protein 1 (REP1), the protein product of the CHM gene, in peripheral blood leukocytes in patients with a typical choroideremia phenotype without identifiable mutations in the CHM gene.
Clinical characterisation and analysis of inheritance pattern in patients with typical CHM phenotype without an identifiable mutation in the CHM gene. Analysis of REP1 protein expression in peripheral blood leukocytes using Western blot analysis, compared to 4 healthy control subjects.
Five male patients with a typical CHM phenotype on extensive ophthalmic examination were included. Four of the 5 patients had a clear X-linked pattern of inheritance, whereas one patient was a sporadic case. In all cases, REP1 expression level was either absent (n=3) or markedly reduced (n=2: 50% and 15%, respectively).
In patients with a typical CHM phenotype, in whom no CHM mutations can be identified with the current genetic techniques, demonstrating a lack of REP1 expression in leukocytes can be used to confirm the diagnosis of CHM. These patients may thus be eligible for inclusion in future CHM gene therapy trials, such as the one that we are currently conducting in a multicentre setting (NCT01461213).
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