A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy
The identification of the same, novel homozygous BEST1 missense variant in twelve patients from nine unrelated, consanguineous families of Egyptian origin, suggests a founder effect. Angle-closure glaucoma was the most commonly associated ocular abnormality (30%). Our finding expands the molecular spectrum of ARB-associated variants, and identification of this founder variant can simplify genetic testing in the presence of limited resources and lead to better counseling.
Authors
- Mona L. Essawi (ORCID: https://orcid.org/0000-0002-1067-8873)
- Caroline Atef Tawfik (ORCID: https://orcid.org/0000-0001-5856-2135)
- Nagham M. Elbagoury (ORCID: https://orcid.org/0000-0002-3826-9780)
- Asmaa F. Abdel‐Aleem
- Dina Baddar (ORCID: https://orcid.org/0000-0001-9509-0624)
- Heba Fathy
Institutions
- Ain Shams University (EG)
- National Human Genome Research Institute (US)
- Research Institute of Ophthalmology (EG)
- National Research Centre (EG)
- National Water Research Center (EG)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-25
- DOI
- https://doi.org/10.1186/s13023-025-03813-1
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Research Centre
- Science and Technology Development Fund