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August 25, 2025International Journal of Molecular SciencesOpen Access

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa

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Authors

VCViviana CordedduIstituto Superiore di SanitàEFElisabetta FlexIstituto Superiore di SanitàLMLuca MigniniUniversity of Rome Tor Vergata

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Overview

Genetic testing reveals BAIAP3 variants impair photoreceptor function, suggesting a cause for retinitis pigmentosa.

Key Points

  • Biallelic loss-of-function variants in BAIAP3 lead to photoreceptor degeneration in retinitis pigmentosa.
  • Patients with BAIAP3 variants showed reduced GLI1 mRNA levels alongside elongated cilia, indicating dysfunction.
  • Whole genome sequencing was performed to identify genetic causes of isolated retinitis pigmentosa.
  • The findings suggest a significant link between BAIAP3 mutations and retinal cell health, warranting further investigation.

Cite This Study

Cordeddu et al. (2025) studied this question.

synapsesocial.com/papers/68af61fdad7bf08b1eae297fhttps://doi.org/10.3390/ijms26178244
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Also Consider

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

  1. 1Retinitis Pigmentosa in a Patient With a Homozygous Mutation in the RBP3 Gene: A Case Report2025
  2. 2A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization2026
  3. 3Loss of BAP31 Is Detrimentally Aging Photoreceptors Through ER Stress-Mediated Retinal Degeneration2025
  4. 4Biallelic Loss-of-Function Variants in <i>UBAP1L</i> and Nonsyndromic Retinal Dystrophies2024 · 1 citations
  5. 5Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy2025