TY - JOUR
T1 - A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa
AU - McGrath, John A.
AU - Darling, Thomas
AU - Gatalica, Biljana
AU - Pohla-Gubo, Gabrielle
AU - Hintner, Helmut
AU - Christiano, Angela M.
AU - Yancey, Kim
AU - Uitto, Jouni
PY - 1996
Y1 - 1996
N2 - 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.
AB - 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.
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U2 - 10.1111/1523-1747.ep12345821
DO - 10.1111/1523-1747.ep12345821
M3 - Article
C2 - 8618019
AN - SCOPUS:0029873761
SN - 0022-202X
VL - 106
SP - 771
EP - 774
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 4
ER -