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

2016; Oxford University Press; Volume: 176; Issue: 4 Linguagem: Inglês

10.1111/bjd.14920

1365-2133

Ignacia Fuentes, Mário Campos, Gabriela M. Repetto, Pilar Morandé, María Joao Yubero, Sergio González, Alfred Klausegger, Peter Schnitzhofer, G. Pohla‐Gubo, Johann Bauer, Francis Palisson,

Wnt/β-catenin signaling in development and cancer

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. This article is protected by copyright. All rights reserved.