Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
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ABSTRACT:
SUBMITTER: Arrigoni FI
PROVIDER: S-EPMC3025782 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
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Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
Arrigoni Francesca I FI Matarin Mar M Thompson Pamela J PJ Michaelides Michel M McClements Michelle E ME Redmond Elizabeth E Clarke Lindsey L Ellins Elizabeth E Mohamed Saifullah S Pavord Ian I Klein Nigel N Hunt David M DM Moore Anthony T AT Halcox Julian J Sisodiya Sanjay M SM
European journal of human genetics : EJHG 20100922 2
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 me ...[more]
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