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- Title
Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.
- Authors
EL HACHEM, May; FORTUGNO, Paola; PALMERI, Antonio; HELMER CITTERICH, Manuela; DIOCIAIUTI, Andrea; PROTO, Vittoria; BOLDRINI, Renata; ZAMBRUNO, Giovanna; CASTIGLIA, Daniele
- Abstract
Mutations in the laminin-332 (α3Aβ3γ2) genes cause junctional epidermolysis bullosa (JEB), a recessively inherited disease characterized by blistering and altered wound repair. In addition, specific mutations that affect the N-terminus of the α3A chain cause a JEB-related non-blistering condition characterized by chronic production of granulation tissue, suggesting a critical role of this region in epithelial-mesenchymal communication. We report here a 9-year-old patient with JEB with a few long-standing skin ulcers with prominent granulation tissue in the absence of active blistering. He bears a homozygous missense mutation, p.Gly254Asp, within the first laminin epidermal growth factor-like (LE) repeat of the β3 short arm. We show that p.Gly254Asp causes misfolding of the LE motif, leading to reduced secretion of laminin-332 and structural alterations of the cutaneous basement membrane zone. These findings demonstrate, in a patient in vivo, that the β3 short arm is also involved in the outcome of the granulation tissue response.
- Subjects
LAMININS; EPIDERMOLYSIS bullosa; SKIN ulcers; GRANULATION tissue; EPIDERMAL growth factor
- Publication
Acta Dermato-Venereologica, 2016, Vol 96, Issue 7, p954
- ISSN
0001-5555
- Publication type
Article
- DOI
10.2340/00015555-2439