April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Analysis of REP1 protein expression in blood leukocytes in typical choroideremia patients without an identifiable REP1 gene mutation
Author Affiliations & Notes
  • Camiel J F Boon
    Ophthalmology, Leiden Univ Med Ctr, Leiden, Netherlands
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
  • Tanya Tolmachova
    Imperial College London, London, United Kingdom
  • Alun R Barnard
    Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom
  • Susan M Downes
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
    Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom
  • Markus Groppe
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
    Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom
  • Andrew Webster
    Moorfields Eye Hospital, London, United Kingdom
  • Robert E MacLaren
    Oxford Eye Hospital, University of Oxford, Oxford, United Kingdom
    Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom
  • Footnotes
    Commercial Relationships Camiel Boon, None; Tanya Tolmachova, None; Alun Barnard, None; Susan Downes, None; Markus Groppe, None; Andrew Webster, None; Robert MacLaren, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 3298. doi:
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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)

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Abstract

Purpose: 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.

Methods: 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.

Results: 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).

Conclusions: 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).

Keywords: 696 retinal degenerations: hereditary • 539 genetics • 539 genetics  
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