title: A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.
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-kDa bullous pemphigoid antigen in the attachment of the epidermis to the underlying dermoepidermal basement membrane.
authors.affiliation: Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: T
authors.initials: T
authors.lastname: Darling
authors.forename: B
authors.initials: B
authors.lastname: Gatalica
authors.forename: G
authors.initials: G
authors.lastname: Pohla-Gubo
authors.forename: H
authors.initials: H
authors.lastname: Hintner
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
authors.forename: K
authors.initials: K
authors.lastname: Yancey
authors.forename: J
authors.initials: J
authors.lastname: Uitto
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D017353:Gene Deletion; D008969:Molecular Sequence Data; D008970:Molecular Weight; D009154:Mutation; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D010375:Pedigree; D010391:Pemphigoid, Bullous / Q000276:immunology*; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII; C095667:Dst protein, mouse