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<p>Biallelic pathogenic variants of the Reticulon 4 interacting protein 1 (<i>RTN4IP1</i>) 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 We have built a dataset for this gene by collating all the clinical cases available in the literature, and unpublished patients diagnosed at our centre, using standard nomenclature to describe both the molecular and phenotypic features.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.</p>

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A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月7日

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  • Aude Rocatcher,
  • Xavier Dieu,
  • Valérie Desquiret-Dumas,
  • Benjamin Billiet,
  • Nicolas Chassaing,
  • Hélène Dollfus,
  • Isabelle Meunier,
  • Marie-Bénédicte Rougier,
  • Yann Polfrit,
  • Guy Lenaers,
  • Dan Milea,
  • Philippe Gohier,
  • Delphine Mirebeau-Prunier,
  • Patrizia Amati-Bonneau,
  • Pascal Reynier,
  • Marc Ferré

摘要

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 We have built a dataset for this gene by collating all the clinical cases available in the literature, and unpublished patients diagnosed at our centre, using standard nomenclature to describe both the molecular and phenotypic features.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.