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The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
- Source :
-
Ophthalmic research [Ophthalmic Res] 2024; Vol. 67 (1), pp. 107-114. Date of Electronic Publication: 2023 Nov 28. - Publication Year :
- 2024
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Abstract
- Background: Although the p.C759F (c.2276G&gt;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.<br />Objectives: The objective of the study was to ascertain the role of p.C759F in hereditary retinal disease.<br />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.<br />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.<br />Conclusions: Our results confirm that p.C759F is a bona fide mutation, leading to retinal blindness according to a recessive pattern of inheritance.<br /> (© 2023 The Author(s). Published by S. Karger AG, Basel.)
Details
- Language :
- English
- ISSN :
- 1423-0259
- Volume :
- 67
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Ophthalmic research
- Publication Type :
- Report
- Accession number :
- 38016437
- Full Text :
- https://doi.org/10.1159/000535545