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September 27, 2025International Journal of Molecular SciencesOpen Access

Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy

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Authors

SASimona AlibrandiCSConcetta ScimoneGAG Abate

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Overview

Computational analysis reveals AIPL1 and BBS2 variants may act digenically, suggesting new insights into inherited retinal dystrophies.

Key Points

  • The study suggests AIPL1 and BBS2 variants may contribute together to inherited retinal dystrophy, indicating a digenic mechanism for these rare cases.
  • Ultra-rare missense variants AIPL1 R302L and BBS2 P134R co-segregate with retinal degeneration in affected family members, highlighting their potential significance.
  • Computational modeling showed destabilization of protein structures due to these variants, supported by transcriptomic data indicating their co-expression in human retina.
  • The findings encourage further experimental validation to explore the digenic contributions to inherited retinal dystrophy, emphasizing computational analysis relevance.

Cite This Study

Alibrandi et al. (2025) studied this question.

synapsesocial.com/papers/68d7cc6aeebfec0fc5238bb5https://doi.org/10.3390/ijms26199430
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Biallelic Loss-of-Function Variants in <i>UBAP1L</i> and Nonsyndromic Retinal Dystrophies2024 · 1 citations
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  4. 4Bi-allelic Variants in AP5Z1 and AP5B1 lead to retinal degeneration2026 · 1 citations
  5. 5Three novel variants in the <i>UBAP1L</i> gene lead to a generalized retinal dystrophy2026