Identifying novel genetic variants in epidermolysis Bullosa among Middle Eastern Arab Families: Insights from whole exome sequencing and computational analysis
WES is an effective first-line diagnostic tool for identifying EB-associated variants. This study reveals locus and allelic heterogeneity in EB cases from Saudi Arabia. The findings underscore the importance of early genetic screening for improving genetic counseling in high-consanguinity populations and emphasize the need for large-scale genetic studies in the country.
Authors
- Hadiah Bassam Al Mahdi (ORCID: https://orcid.org/0000-0003-3483-9499)
- Zuhier Awan (ORCID: https://orcid.org/0000-0002-4176-335X)
- Babajan Banaganapalli (ORCID: https://orcid.org/0000-0001-8089-2210)
- Noor Ahmad Shaik (ORCID: https://orcid.org/0000-0002-7133-656X)
- Fahad Hakami
- Nancy Shehata (ORCID: https://orcid.org/0009-0006-0237-3478)
- Mahmoud Younis
- Sultana Abdulghani
- Shmoukh Alghuraibi
Institutions
- King Abdulaziz University (SA)
- King Abdullah International Medical Research Center (SA)
- University of Jeddah (SA)
- King Abdullah Medical City (SA)
Publication Details
- Journal
- PLoS ONE
- Published
- 2025-09-16
- DOI
- https://doi.org/10.1371/journal.pone.0328296
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00