Article
Single-base substitutions in the CHM promoter as a cause of choroideremia.
Human mutation - 1 Jun 2017
Radziwon Alina, Arno Gavin, K Wheaton Dianna, McDonagh Ellen M, Baple Emma L, Webb-Jones Kaylie, G Birch David, Webster Andrew R, MacDonald Ian M
Abstract excerpt
Although over 150 unique mutations affecting the coding sequence of CHM have been identified in patients with the X-linked chorioretinal disease choroideremia (CHM), no regulatory mutations have been reported, and indeed the promoter has not been defined. Here, we describe two independent families affected by CHM bearing a mutation outside the gene's coding region at position c.-98: C>A and C>T, which segregated...
Topics
- Adaptor Proteins, Signal Transducing
- Choroideremia
- Female
- Genetic Diseases, X-Linked
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation
- Pedigree
- Promoter Regions, Genetic
- Retina
- Retinal Degeneration