Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa

Patrizia Posteraro, Naomi De Luca, Guerrino Meneguzzi, May El Hachem, Corrado Angelo, Tommaso Gobello, Gianluca Tadini, Giovanna Zambruno, Daniele Castiglia

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Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by dermal-epidermal separation that is caused by mutations in the genes encoding hemidesmosomal components and laminin-5, the major epithelial adhesion ligand. Here, we report on the mutational analysis of LAMA3, LAMB3, and LAMC2 genes encoding laminin-5 chains in 19 Italian patients, 11 affected with the severe Herlitz (H JEB) and eight with the mild non-Herlitz variant of JEB (non-H JEB). Eighteen mutations, seven of which were novel, were identified and their consequences analyzed at the mRNA and protein level. Premature termination codon mutations in both alleles of LAMB3 or LAMC2 genes were found in nine of the 11 H JEB patients, with a prevalence of mutations in LAMC2. In one case, a homozygous frameshift mutation in LAMB3 was associated to illegitimate splicing leading to non-H JEB. One H JEB patient showed a large intragenic duplication within LAMC2, a genetic defect so far uncovered in laminin-5 genes. Splicing or missense mutations, were prevalent in non-H JEB patients. Collectively, five mutations appeared to be frequent in laminin-5 JEB patients: R635X, 29insC, E210K, W143X in LAMB3 and R95X in LAMC2. These recurrent mutations account for approximately 44% of laminin-5 JEB alleles in Italian patients.

Original languageEnglish
Pages (from-to)639-648
Number of pages10
JournalJournal of Investigative Dermatology
Issue number4
Publication statusPublished - Oct 2004


  • Italian patients
  • Junctional epidermolysis bullosa
  • Laminin-5
  • Mutational analysis

ASJC Scopus subject areas

  • Dermatology


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