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

Journal of Investigative Dermatology

Volumn 106, Issue 4, 1996, Pages 771-774

  McGrath, John A ^a   Darling, Thomas ^b   Gatalica, Biljana ^a   Pohla Gubo, Gabrielle ^c   Hintner, Helmut ^c   Christiano, Angela M ^a   Yancey, Kim ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c St Johanns Spital   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE DELETION; HOMOZYGOSITY; HUMAN; MALE; PEMPHIGOID; PRIORITY JOURNAL;

EID: 0029873761     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12345821     Document Type: Article

References (25)

1. Aberdam D, Galliano M-F, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Uitto J, Epstein EH Jr, Ortonne J-P, Meneguzzi G: Herlitz's junctional epidermolysis bullosa is linked Co mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (laminin-5). Nat Genet 6:299-304, 1994
2. Cheng J, Fogel-Petrovic M, Maquat LE: Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol 10:5215-5225, 1990
3. Christiano AM, Uitto J: DNA-based prenatal diagnosis of heritable skin diseases. Arch Dermatol 129:1455-1459, 1993
4. Fine J-D, Bauer EA, Briggaman RA, Carter DM, Eady RAJ, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, Pearson R, Sybert VP: Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 24:119-135, 1991
5. Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A 90:10325-10329, 1993
6. Giudice GJ, Emery DJ, Diaz LA: Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J Invest Dermatol 99:243-250, 1992
7. Hashimoto I, Schnyder UW, Anton-Lamprecht I: Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 152:72-86, 1976
8. Hintner H, Wolff K: Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 118:375, 1982
9. Jonkman MF, de Jong MCJM, Heeres K, Pas HH, van der Meer JB, Owaribe K, Martinez de Velasco AM, Niessen AM, Sonnenberg A: 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 95:1345-1352, 1995
10. Keen J, Lesler D, Ingleborn C, Curtis A, Bhattacharusa S: Rapid detection of single base mismatches as heteroduplexes on hydrolink gels. Trends Genet 7:5, 1991
11. Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MGS, McMillan JR, Eady RAJ, Ortonne J-P, Meneguzzi G, Uitto J, Christiano AM: A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 4:959-962, 1995
12. McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RAJ, Uitto J: Mutations n the 180-kD bullous pemphigoid antigen (BPAG2), a transmembrane hemidesmosomal collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11:83-86, 1995a
13. McGrath JA, Pulkkinen I, Christiano AM, Leigh IM, Eady RAJ, Uitto J: Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474, 1995b
14. Pohla-Gubo G, Lazarova Z, Giudice GJ, Liebert M, Grassegger A, Hintner H, Yancey KB: Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 4:199-206, 1995
15. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J: Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin-5 in the junctional forms of epidermolysis bullosa. Nat Genet 6:293-298, 1994a
16. Pulkkinen L, Christiano AM, Gerecke DR, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J: A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:357-360, 1994b
17. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, 1989
18. Schnyder UW, Anton-Lamprecht I: Zur Klinik der Epidermolysen mit junktionaler Blasenbildung. Dermatologica 159:402-406, 1979
19. Schofield OMV, Fine J-D, Verrando P, Heagerty AHM, Ortonne J-P, Eady RAJ: GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. J Am Acad Dermatol 23:1078-1083, 1990
20. Taichman LB: Epithelial gene therapy. In: Leigh IM, Lane EB, Watt FM (ed.). The Keratinocyte Handbook. Cambridge University Press, Cambridge, U.K., 1991, pp 543-551
21. Uitto J, Christiano AM: Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 90:687-692, 1992
22. Uitto J, Pulkkinen L, Christiano AM: Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol 103:39S-46S, 1994
23. Urlaub G, Mitchell PJ, Ciudad CJ, Chasin LA: Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 9:2868-2880, 1989
24. Vidal F, Aberdam D, Christiano AM, Uitto J, Ortonne J-P, Meneguzzi G: Mutations in the gene for the integrin β4 subunit are associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10:229-234, 1995
25. Yancey KB: Adhesion molecules. II: Interactions of keratinocytes with epidermal basement membrane. J Invest Dermatol 104:1008-1014, 1995