A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa

Stéphane Chavanas, Yannick Gache, GianLuca Tadini, Leena Pulkkinen, Jouni Uitto, Jean Paul Ortonne, Guerrino Meneguzzi

Research output: Contribution to journalArticle

Abstract

We report a missplicing event affecting the expression of bullous pemphigoid antigen BP180 (type XVII collagen) in a patient with generalized atrophic benign epidermolysis bullosa (GABEB). The segregation of the mutated allele in the family is consistent with the pathogenic role of the mutation. The homozygous mutation 2441-2A → G disrupts a splice-site sequence in gene (BPAG2) for BP180 and results in an in-frame exon skipping within the collagenous ectodomain of the protein. The consequent deletion of 9 amino acids in the mutant BP180 is predicted to alter the structure of the homotrimer and is expected to exert a deleterious effect on stability of the protein that would account for the complete absence of immunoreactivity of the proband's skin to antibodies directed against BP180. These findings underscore the importance of structural integrity of the extracellular domain of BP180 for the stability of the protein.

Original languageEnglish
Pages (from-to)74-78
Number of pages5
JournalJournal of Investigative Dermatology
Volume109
Issue number1
Publication statusPublished - 1997

Keywords

  • Basement membrane
  • GABEB
  • Hemidesmosome
  • Keratinocyte

ASJC Scopus subject areas

  • Dermatology

Fingerprint Dive into the research topics of 'A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa'. Together they form a unique fingerprint.

  • Cite this