Whole-Exome Sequencing Identified a Novel Mutation in an Iranian Patient with Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a rare, genetically heterogeneous disorder characterized by skin fragility. EB is categorized into four types: simplex, junctional, dystrophic, and Kindler syndromes. The condition is caused by mutations in several genes that are important for skin integrity and dermal-epidermal adhesion. In the present study, we recruited a patient with EB from an Iranian pedigree for genetic evaluation.

Whole-exome sequencing (WES) and bioinformatics analysis were performed using genomic DNA from the patient with EB. The potential variant was confirmed by Sanger sequencing.

We identified a novel likely pathogenic variant in exon 3 of the COL17A1 gene: c.82dup (p.Thr28Asnfs15). The patient's parents were heterozygous carriers of this mutation. In silico structural prediction suggested that this variant could cause premature termination of COL17A1. This variant is associated with intermediate junctional EB-4 (JEB4).

This study highlights that WES enhances our understanding of genetic diagnosis, and it contributes to the expanded mutational spectrum of the COL17A1 gene associated with JEB.