Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region

  • Ayat Kadhi
  • , Lamiaa Hamie
  • , Edward Eid
  • , Georges Nemer*
  • , Mazen Kurban*
  • *Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Article number4935
JournalDermatology Practical and Conceptual
Volume15
Issue number1
Early online date1 Jan 2025
DOIs
Publication statusPublished - 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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