Abstract
Biallelic pathogenic variants of the Reticulon 4 interacting protein 1 (RTN4IP1) gene are responsible for optic atrophy, either isolated or associated with ataxia, mental retardation, and seizures. They are identified as a cause of hereditary optic neuropathy in 7% of patients diagnosed before the age of 20. We have built a dataset for this gene by collating all the clinical cases available in the literature, and unpublished patients diagnosed at our centre, using standard nomenclature to describe both the molecular and phenotypic features. We performed a comprehensive data analysis, based on computational reasoning, to provide an overall picture of the dataset and validate its relevance. This new dataset provides an updated genetic map of the reported pathogenic variants, an ontological annotation of phenotypic abnormalities in a grid format showing clinical heterogeneity, and a full interoperability with the databases of other genetic forms of optic neuropathies.
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Acknowledgements
We gratefully acknowledge grants from the following foundations and patient associations: Fondation Visio, Kjer France, Ouvrir les Yeux, Retina France, and Association contre les Maladies mitochondriales.
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Rocatcher, A., Dieu, X., Desquiret-Dumas, V. et al. A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants. Sci Data (2026). https://doi.org/10.1038/s41597-026-07226-y
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DOI: https://doi.org/10.1038/s41597-026-07226-y
