Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa

Rita Gardella, Daniele Castiglia, Patrizia Posteraro, Silvia Bernardini, Nicoletta Zoppi, Mauro Paradisi, Gianluca Tadini, Sergio Barlati, John A. McGrath, Giovanna Zambruno, Marina Colombi

Research output: Contribution to journalArticlepeer-review


Dystrophic epidermolysis bullosa (DEB) is a rare skin disorder that is clinically heterogeneous and is transmitted either in dominant (DDEB) or recessive (RDEB) mode. Nevertheless, all variants of DEB are caused by mutations in type VII collagen gene (COL7A1). We report an analysis of COL7A1 mutations in 51 Italian DEB patients, 27 affected with Hallopeau-Siemens RDEB, 19 with non Hallopeau-Siemens RDEB, two with DDEB, two with pretibial RDEB, and one with inversa RDEB. Forty-one mutations were identified, 18 of which are novel. Mutation consequences were analyzed at the mRNA and protein level and genotype-phenotype correlation was determined. Recessive inheritance of a new case of pretibial RDEB was also established. In RDEB patients, six recurrent mutations were identified: 7344G → A, 425A → G, 8441-14del21, 4783-1G → A, 497insA, and G1664A, the last three being found only in Italian patients. Indeed, haplotype analysis supported propagation of ancestral mutated alleles within the Italian population for these particular mutations. Altogether recurrent mutations account for approximately 43% of RDEB alleles in Italian patients and therefore new DEB patients should first be screened for the presence of these mutations.

Original languageEnglish
Pages (from-to)1456-1462
Number of pages7
JournalJournal of Investigative Dermatology
Issue number6
Publication statusPublished - 2002


  • COL7A1
  • Diagnosis
  • Dystrophic epidermolysis bullosa
  • Recurrent mutations
  • Type VII collagen

ASJC Scopus subject areas

  • Dermatology


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