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February 25, 20260 citations

Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.

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SFSpanic FilipMCMichiels ChristelleNJN. Julien

Key Points

  • The study aims to identify a novel noncoding variant in the NYX gene and its role in cone-rod dystrophy.
  • Genetic screening of noncoding regions in known inherited retinal disease (IRD) genes.
  • Functional validation of the identified NYX variant.
  • Comparison of NYX variants in patients with and without high myopia.
  • Identification of a novel noncoding variant in the NYX gene linked to CSNB.
  • No association found between the NYX variant and high myopia.
  • Emphasis on the need for further exploration of noncoding regions in genetically unresolved cases.

Abstract

To our knowledge, this is the first report describing a noncoding variant in NYX causing CSNB but lacking high myopia. These results highlight the clinical importance of screening noncoding regions of known IRD genes in genetically unsolved cases. Whether the development of high myopia in cCSNB depends on the type and location of NYX variants remains to be elucidated.

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Cite This Study

Filip et al. (2026) studied this question.

synapsesocial.com/papers/699e919cf5123be5ed04f4d3https://doi.org/10.1111/aos.70094
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