Novel <i>BEST1</i> Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure–Function Correlation
The study and comparison of these two large cohorts highlight variants specific to the French population, as well as differences in protein distribution, which are undoubtedly influenced by several population-specific factors. Through multiple in silico analyses, we were able to reclassify 93.3% of variants as likely pathogenic or pathogenic, thereby strengthening clinical diagnoses.
Authors
- Olivier Grunewald (ORCID: https://orcid.org/0000-0002-9845-948X)
- Isabelle Meunier (ORCID: https://orcid.org/0000-0003-3407-5265)
- Vasily Smirnov (ORCID: https://orcid.org/0000-0003-1629-4579)
- Aurore Devos
- Anaïs F. Poncet (ORCID: https://orcid.org/0000-0002-3035-3793)
- Claire‐Marie Dhaenens (ORCID: https://orcid.org/0000-0003-4719-4124)
- Joan Bitan (ORCID: https://orcid.org/0000-0002-3923-6972)
- Xavier Zanlonghi
- Claire Lecigne
Institutions
- Inserm (FR)
- Université de Montpellier (FR)
- Université de Lille (FR)
- Institut Pasteur de Lille (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Institute for Neurosciences of Montpellier (FR)
- Centre Hospitalier Universitaire de Rennes (FR)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1167/iovs.66.12.4
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Leids Universitair Medisch Centrum
- Retina France