Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

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 Anne, Mohamed, Saifullah, Pavord, Ian, Hunt, David M., Moore, Anthony T., Halcox, Julian P. J. 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. 10.1038/ejhg.2010.147

Full text not available from this repository.

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
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords: PROM1, CD133, endothelial, tubule, sella turcica
Publisher: Nature Publishing Group
ISSN: 1018-4813
Last Modified: 04 Jun 2017 03:59
URI: http://orca-mwe.cf.ac.uk/id/eprint/30172

Citation Data

Cited 21 times in Google Scholar. View in Google Scholar

Cited 18 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item