A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia

Laura Ruzzi, Laurent Gagnoux-Palacios, Mari Pinola, Serena Belli, Guerrino Meneguzzi, Marina D'Alessio, Giovanna Zambruno

Research output: Contribution to journalArticlepeer-review


The α6 integrin subunit participates in the formation of both α6β1 and α6β4 laminin receptors, which have been reported to play an important role in cell adhesion and migration and in morphogenesis. In squamous epithelia, the α6β4 heterodimer is the crucial component for the assembly and stability of hemidesmosomes. These anchoring structures are ultrastructurally abnormal in patients affected with junctional epidermolysis bullosa with pyloric atresia (PA-JEB), a recessively inherited blistering disease of skin and mucosac characterized by an altered immunoreactivity with antibodies specific to integrin α6β4. In this report, we describe the first mutation in the α6 integrin gene in a PA-JEB patient presenting with generalized skin blistering, aplasia cutis, and defective expression of integrin α6β4. The mutation (791delC) is a homozygous deletion of a single base (C) leading to a frameshift and a premature termination codon that results in a complete absence of α6 polypeptide. We also describe the DNA- based prenatal exclusion of the disease in this family at risk for recurrence of PA-JEB. Our results demonstrate that, despite the widespread distribution of the α6 integrin subunit, lack of expression of the α6 integrin chain is compatible with fetal development, and results in a phenotype indistinguishable from that caused by mutations in the β4 chain, which is expressed in a more limited number of tissues.

Original languageEnglish
Pages (from-to)2826-2831
Number of pages6
JournalJournal of Clinical Investigation
Issue number12
Publication statusPublished - Jun 15 1997


  • Hemidesmosome
  • Inherited epidermolysis bullosa
  • Integrin α6 gene
  • Keratinocyte
  • Mutation

ASJC Scopus subject areas

  • Medicine(all)


Dive into the research topics of 'A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia'. Together they form a unique fingerprint.

Cite this