Pretibial dystrophic epidermolysis bullosa: A recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

Christine M. Betts, P. Posteraro, A. M. Costa, C. Varotti, M. Schubert, L. Bruckner-Tuderman, D. Castiglia

Research output: Contribution to journalArticlepeer-review

Abstract

Pretibial epidermolysis bullosa (PEB) is a rare form of localized epidermolysis bullosa dystrophica (EBD), a heterogeneous group of inherited, blistering diseases characterized by scarring, loss of dermal-epidermal adhesion and altered anchoring fibrils (AF). Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. We report a 33-year-old man affected by PEB showing abnormal AF and reduced immunostaining for type VII collagen. Mutation search in the COL7A1 gene revealed a 14 bp deletion in the 115 exon-intron boundary (33563del14), which resulted in the in-frame skipping of exon 115 with elimination of 29 amino acids from the pro-α1(VII) polypeptide chain. As a consequence, procollagen VII failed to be processed to mature collagen VII and accumulated at the dermal-epidermal junction, as revealed by immunofluorescence staining using a NC-2 domain-specific antibody. The proband's father was a clinically unaffected heterozygous carrier of mutation 33563del14, whereas the maternal pathogenetic mutation has still not been identified. This represents the first report of a recessive deletion mutation in PEB and extends the range of EBD phenotypes associated with mutation 33563del14.

Original languageEnglish
Pages (from-to)833-839
Number of pages7
JournalBritish Journal of Dermatology
Volume141
Issue number5
DOIs
Publication statusPublished - 1999

Keywords

  • Anchoring fibrils
  • COL7A1 mutation
  • Epidermolysis bullosa dystrophica
  • Pretibial epidermolysis bullosa

ASJC Scopus subject areas

  • Dermatology

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