A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.

Abstract excerpt

INTRODUCTION: Molecular confirmation of pathogenic sequence variants in the CHM gene is required prior to enrolment in retinal gene therapy clinical trials for choroideremia. Individuals with mild choroideremia have been reported. The molecular basis of genotype-phenotype associations is of clinical relevance since it may impact on selection for retinal gene therapy. METHODS AND MATERIALS: Genetic testing and RNA...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Choroideremia
• Share to Exons