Molecular characterization of <i>CHST6</i> in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants
This study broadens the genetic landscape of MCD by identifying novel <i>CHST6</i> variants in an Egyptian cohort. The high rate of homozygosity highlights the significant role of consanguinity in shaping the genetic burden of rare diseases in Egypt and the wider Middle East and North Africa region.
Authors
- Ľubica Ďuďáková (ORCID: https://orcid.org/0000-0003-4718-8955)
- A. Ghazy (ORCID: https://orcid.org/0000-0002-6118-4830)
- Jana Jedličková (ORCID: https://orcid.org/0000-0002-1769-1659)
- Amin Am
- Petra Liskova
- Shahira Mahmoud
- Mohamed Bahgat Goweida
Institutions
- Charles University (CZ)
- General University Hospital in Prague (CZ)
- Alexandria University (EG)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-01-21
- DOI
- https://doi.org/10.1080/13816810.2025.2611112
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00