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

January 2025 in “ Dermatology Practical & Conceptual ”

Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban

androgenic alopecia vitiligo FOXC1 SMARCD1 HPS1 ITK Whole Exome Sequencing genodermatoses

TLDR A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

This study explores the genetic basis of two skin-inherited diseases, androgenic alopecia and vitiligo, in the MENA region, using Whole Exome Sequencing and GEO datasets. It proposes a di-genic model of inheritance, identifying gene variants FOXC1 and SMARCD1 for androgenic alopecia, and HPS1 and ITK for vitiligo. The findings suggest a novel inheritance model that could enhance personalized treatment and early diagnosis for these conditions.

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