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Updated: Jul 9, 2025
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The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667
Ji Hoon Han1,2, Francesca Cancellieri1,2, Irene Perea-Romero3,4
1Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Background:
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.
Objectives:
The objective of the study was to ascertain the role of p.C759F in hereditary retinal disease.
Methods:
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:
Independent statistical analyses showed that p.C759F (i) is highly enriched in patients with respect to healthy individuals, (ii) represents a clear-cut recessive allele causing disease when it is in trans with other mutations, (iii) is pathogenic in homozygotes.
Conclusions:
Our results confirm that p.C759F is a bona fide mutation, leading to retinal blindness according to a recessive pattern of inheritance.
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