Summary
Summary Nonsense mutations are point mutations that convert an amino acid encoding codon into a premature termination codon (PTC). The consequences of PTCs are nonsense-mediated mRNA decay, and for transcripts that persist, premature translation termination. PTCs are a major cause of human disease, accounting for >10% of all described disease-causing genetic alterations, including nearly all forms of hereditary eye disease (retinal disease, corneal disease, glaucoma, congenital cataract, retinoblastoma, syndromes impacting vision, and others). There has been a longstanding appreciation that th
