A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa

John A. McGrath, Thomas Darling, Biljana Gatalica, Gabrielle Pohla-Gubo, Helmut Hintner, Angela M. Christiano, Kim Yancey, Jouni Uitto

Research output: Contribution to journalArticle

60 Scopus citations

Abstract

The 180-kDa bullous pemphigoid antigen (BPAG2) is a candidate gene/protein for mutations in some forms of junctional epidermolysis bullosa. In this study, we searched for mutations in BPAG2 in a large Austrian pedigree with generalized atrophic benign epidermolysis bullosa, a distinct nonlethal form of junctional epidermolysis bullosa, using polymerase chain reaction amplification of genomic DNA, heteroduplex analysis of the polymerase chain reaction products, and direct nucleotide sequencing. We identified a homozygous 2-bp deletion within the coding region of BPAG2 in the affected individuals. This mutation results in a frameshift and downstream stop codons on both alleles, predicting an absence of functional protein. These findings illustrate the molecular basis of the skin fragility in this family and attest to the importance of the 180-kDg bullous pemphigoid antigen in the attachment of the epidermis to the underlying dermoepidermal basement membrane.

Original languageEnglish (US)
Pages (from-to)771-774
Number of pages4
JournalJournal of Investigative Dermatology
Volume106
Issue number4
DOIs
StatePublished - Jan 1 1996

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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