Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

Arrigoni, Francesca I, Matarin, Mar, Thompson, Pamela J, Michaelides, Michel, McClements, Michelle E, Redmond, Elizabeth, Clarke, Lindsey, Ellins, Elizabeth, Mohamed, Saifullah, Pavord, Ian, Hunt, David M, Moore, Anthony T, Halcox, Julian and Sisodiya, Sanjay M (2011) Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. European Journal of Human Genetics, 19(2), pp. 131-137. ISSN (print) 1018-4813

Full text not available from this archive.

Abstract

Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in hippocampal neurogenesis, we examined two kindreds with the same R373C PROM1 missense mutation using our established paradigm to study brain structure and function. As the protein encoded by PROM1, known as CD133, is used to identify stem/progenitor cells that can be found in peripheral blood and reflect endothelial reparatory mechanisms, other parameters were subsequently examined that included measures of vascular function, endothelial function and angiogenic capacity. We found that aspects of endothelial function assayed ex vivo were abnormal in patients with the R373C PROM1 mutation, with impaired adhesion capacity and higher levels of cellular damage. We also noted renal infections, haematuria and recurrent miscarriages possibly reflecting consequences of abnormal tubular modelling. Further studies are needed to confirm these findings.

Item Type: Article
Additional Information: This work was supported by UCLH/UCL; Great Ormond Street Hospital for Children; UCL Institute of Child Health; Moorfields Eye Hospital/UCL Institute of Ophthamology; British Heart Foundation; Coronary Artery Disease Research Association, and Fight for Sight.
Research Area: Biological sciences
Faculty, School or Research Centre: Faculty of Science, Engineering and Computing (until 2017) > School of Life Sciences
Related URLs:
Depositing User: Gemma Sansom
Date Deposited: 04 Jan 2013 11:33
Last Modified: 04 Jan 2013 11:35
DOI: https://doi.org/10.1038/ejhg.2010.147
URI: http://eprints.kingston.ac.uk/id/eprint/24360

Actions (Repository Editors)

Item Control Page Item Control Page