Supplementary Material for: The p.C759F variant in USH2A is a pathogenic mutation: systematic literature review and meta-analysis of 667 genotypes

Introduction: Although the p.C759F (c.2276G>T, p.Cys759Phe) variant in the USH2A gene has been identified in association with retinal degeneration by several authors, its pathogenicity has been questioned once by the publication of two unaffected homozygotes from a single family. Materials and Methods: To gain insights into this apparent discrepancy, we examined 87 research articles reporting on patients carrying this variant, and then used this information as primary data for a series of meta-analytical tests. Results and Conclusions: Our results confirm that p.C759F is a bona fide mutation, leading to retinal blindness according to a recessive pattern of inheritance.