Article
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
PloS one - 1 Jan 2017
Van Cauwenbergh Caroline, Coppieters Frauke, Roels Dimitri, De Jaegere Sarah, Flipts Helena, De Zaeytijd Julie, Walraedt Sophie, Claes Charlotte, Fransen Erik, Van Camp Guy, Depasse Fanny, Casteels Ingele, de Ravel Thomy, Leroy Bart P, De Baere Elfride
Abstract excerpt
PURPOSE: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition. METHODS: Mutation detection methods evolved over the past ten years,...
Topics
- Adult
- Aged
- Belgium
- Cohort Studies
- DNA Mutational Analysis
- Eye Proteins
- Family
- Female
- Gene Frequency
- Genes, Dominant