Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients.

Abstract

Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care. Our study cohort includes 10 Tunisian patients with EB whose genetic profiles were investigated by exome sequencing. In silico analysis was conducted to determine the functional impact of three novel variants. We revealed ten genetic variants, including three novel ones within the COL7A1 and DST genes. The in silico analysis shed light on the potential structural and functional implications of these novel variants. By establishing the correlation between clinical features and genetic alterations, we have expanded the existing database of disease-causing variants associated with EB in Northern Africa. Our study fills a critical knowledge gap in the North African context, where the scarcity of clinical database and genetic testing in addition to the genetic diversity necessitates comprehensive research. Our findings have the potential to improve diagnosis and management strategies for EB patients in low and middle-income countries across the region, especially through the integration of exome sequencing and in silico analysis.