Abstract
Introduction: Genodermatoses refer to a group of heterogenous rare genetic diseases with cutaneous expression. Several genodermatoses present with multisystem involvement that can range from mild to life-threatening conditions leading to increased morbidity and mortality. Objective: Given the paucity in the literature in the field of genodermatoses, especially in the Middle East and North Africa (MENA) region, and building upon the first established genodermatoses database based in Lebanon, this study aimed to decipher the genetic basis of two different types of skin-inherited diseases (androgenic alopecia and vitiligo). Methods: We conducted a pilot study on two subjects with androgenic alopecia and vitiligo to investigate the possibility of a digenic inheritance model as a potential underlying mechanism for these conditions. Whole exome sequencing (WES) and Gene Expression Omnibus (GEO) DataSets were employed to validate the methodology and provide a foundation for future, larger-scale studies.
| Original language | English |
|---|---|
| Article number | 4935 |
| Journal | Dermatology Practical and Conceptual |
| Volume | 15 |
| Issue number | 1 |
| Early online date | 1 Jan 2025 |
| DOIs | |
| Publication status | Published - 29 Jan 2025 |
Keywords
- Digenic inheritance
- Genodermatoses
- Microarray Gene Expression DataSets
- Whole-exome sequencing
- Digenic inheritance, Genodermatoses, Whole-exome sequencing, Microarray Gene Expression DataSets
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