Molecular epidemiology of Junctional Epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance

Abstract

Epidermolysis bullosa (EB) is an inherited disease encompassing a group of clinically and genetically heterogeneous disorders, characterized by mechanical fragility of epithelial tissue with blistering formation following minor trauma, most notably on the skin¹. The junctional form of EB (JEB, OMIM #226650 and #226700) is a monogenic autosomal recessive disorder characterized by blistering within the lamina lucida. JEB, among all EB types, can have the most severe clinical manifestations and the highest risk of infant mortality ². To date, hundreds of mutations in six different genes have been described to cause JEB, provoking a limitation for an assertive molecular diagnosis.

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