Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome: Application for prenatal diagnosis in a family at risk for recurrence

Archives of Dermatology

Volumn 132, Issue 8, 1996, Pages 919-925

  Shimizu, Hiroshi ^a   Suzumori, Kaoru ^b,c   Hatta, Naohito ^b,d   Nishikawa, Takeji ^a  

^a KEIO UNIVERSITY   (Japan)

^b Department of Obstetrics ^*  (Japan)

^c City University

^d University School of Medicine

Author keywords

[No Author keywords available]

Indexed keywords

INTEGRIN;

ARTICLE; ATRESIA; CASE REPORT; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA; FEMALE; GENETIC SUSCEPTIBILITY; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN SYNTHESIS; SCHOOL CHILD; SKIN BIOPSY; STOMACH ANTRUM;

ANTIGENS, CD; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HUMANS; INTEGRIN ALPHA6; INTEGRINS; PREGNANCY; PRENATAL DIAGNOSIS; PYLORUS; RISK FACTORS; SYNDROME;

EID: 0029793261     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.132.8.919     Document Type: Article

References (48)

1. Fine JD, Bauer EA, Briggaman RA, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J Am Acad Dermatol. 1991; 24:119-135.
2. Leslringant GG, Akel SR, Qayed KI. The pyloric atresia-junctional epidermolysis bullosa syndrome: report of a case and review of the literature. Arch Dermatol. 1992;128:1083-1086.
3. Nazzaro V, Nicolini U, De LL, Berti E, Caputo R. Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Med Genet. 1990;27:244-248.
4. Lacour JP, Huffman P, Bastiani GF, Boutte P, Pisani A, Ortonne JP. Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antropyloric atresia. fur J Pediatr. 1992;151:252-257.
5. Hashimoto I, Schnyder UW, Anton LI. Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica. 1976;152:72-86.
6. Tidman MJ, Eady RA. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol. 1986; 86:51-56.
7. Verrando P, Blanchet BC, Pisani A, et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest. 1991;64:85-92.
8. Heagerty AH, Kennedy AR, Eady RA, et al. GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. Lancet. 1986;1:860.
9. Fine JD, Horiguchi Y, Couchman JR. 19-DEJ-1, a hemidesmosome-anchoring filament complex-associated monoclonal antibody: definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa. Arch Dermatol. 1989;125:520-523.
10. Fine JD, Holbrook KA, Elias S, Anton LI, Rauskolb R. Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa. Prenat Diagn. 1990;10:219-229.
11. Burgeson RE, Chiquet N, Deutzmann R, et al. A new nomenclature for laminins. Matrix Boil 1994;14:209-211.
12. Aberdam D, Galliano MF, Vailly J, et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet. 1994;6:299-304.
13. Kivirikko S, McGrath JA, Baudoin C, et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMAS) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet. 1995;4:959-962.
14. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J. Altered laminin 5 expression due to mutations in the gene encoding the β3 chains (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1995;104:467-474.
15. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet. 1994;6:293-297.
16. Pulkkinen L, Christiano AM, Gerecke DR, et al. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics. 1994;24:357-360.
17. Stanley JR. Woodley DT, Katz SI. Identification and partial characterization of pemphigoid antigen extracted from normal human skin. J Invest Dermatol. 1984;82:108-111.
18. Shimizu H, McDonald JN, Kennedy AR, Eady RA. Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy. Arch Dermatol Res. 1989;281:443-448.
19. Tanaka T, Kornan NJ, Shimizu H, et al. Production of rabbit antibodies against carboxy-lerminal epitopes encoded by bullous pemphigoid cDNA. J Invest Dermatol. 1990;94:617-623.
20. Fine JD. Epidermolysis bullosa. J Invest Dermatol. 1985;85:47-49.
21. Amagai M, Elgart GW, Klaus KV, Stanley JR. Southern analysis of the 230-kD bullous pemphigoid antigen gene in normal humans, animals, and patients with junctional epidermolysis bullosa. J Invest Dermatol. 1991;97: 249-253.
22. Diaz LA, Ratrie Hd, Saunders WS, et al. Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera. J Clin Invest. 1990;86:1088-1094.
23. Ishiko A, Shimizu H, Kikuchi A, Ebihara T, Hashimoto T, Nishikawa T. Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome, whereas those against the 180-kD bullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesmosome in normal human and swine skin. J Clin Invest. 1993;91:1608-1615.
24. Jonkman MF, de Jong MC, Heeres K, et al. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest. 1995;95:1345-1352.
25. McGrath JA, Gatalica B, Christiano AM, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet. 1995;11:83-86.
26. Shimizu H, Fine J-D, Suzumori K, Hatta N, Shozu M, Nishikawa T. Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome. J Am Acad Dermatol. 1994;31:429-433.
27. Phillips RJ, Aplin JD, Lake BD. Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. Histopathology. 1994;24:571-576.
28. Gil SG, Brown TA, Ryan MC, Carter WG. Junctional epidermolysis bullosis. J Invest Dermatol. 1994;103:31s-38s.
29. Vidal F, Aberdam D, Miquel C, et al. Integrin beta-4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet. 1995;10:229-234.
30. Sonnenberg A, Janssen H, Hogervorst F. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody. J Biol Chem. 1987;103: 10376-10383.
31. Kennel SJ, Foote LJ, Falcioni R, et al. Analysis of the tumor-associated antigen T58-180: identity with α6β4 in the integrin superfamily. J Biol Chem. 1989; 264:15515-15521.
32. Kennel SJ, Epler RG, Lankford TK, et al. Second generation monoclonal antibodies to the human integrin α6β4. Hybridoma. 1990;9:243-255.
33. Leigh IM, Purkis PE, Bruckner-Tuderman L. LH7.2 monoclonal antibody detects type VII collagen in the sublamina densa zone of ectodermally-derived epithelia, including skin. Epithelia. 1987;1:17-29.
34. Shimizu H, McDonald JN, Gunner DB, et al. Epidermolysis bullosa acquisita antigen and the carboxy terminus of type VII collagen have a common immunolocalization to anchoring fibrils and lamina densa of basement membrane. Br J Dermatol. 1990;122:577-585.
35. Shimizu H, Ishida YA, Eady RA. The use of silver-enhanced 1-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin. J Histochem Cytochem. 1992;40:883-888.
36. Heagerty AH, Kennedy AR, Gunner DB, Eady RA. Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes. J Invest Dermatol. 1986;86:603-605.
37. Heagerty AH, Kennedy AR, Leigh IM, Purkis P, Eady RA. Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis. Br J Dermatol. 1986;115:125-131.
38. Shimizu H, Onodera Y, Ikeda S, Ogawa H, Suzumori K, Nishikawa T. Prenatal diagnosis of epidermolysis bullosa. Dermatology. 1994;188:46-49.
39. Hynes RO. Integrins: a family of cell surface receptors. Cell. 1987:48:549-554.
40. Sonnenberg A, Linders CJ, Daams JH, Kennel SJ. The alpha 6 beta 1 (VLA-6) and alpha 6 beta 4 protein complexes. J Cell Sci. 1990;96:207-217.
41. Sonnenberg A, Calafat J, Janssen H, et al. Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion. J Cell Biol. 1991;113:907-917.
42. Natali PG, Nicotra MR, Bigotti A, De Martino C. Localization of the a6 and b4 integrin subunits in normal human non-lymphoid tissues. J Cell Sci. 1992; 103:1243-1247.
43. Nazzaro V, Berti E, Cerri A, Brusasco A, Cavalli R, Caputo R. Expression of integrins in junctional and dystrophic epidermolysis bullosa. J Invest Dermatol. 1990;95:60-64.
44. Fine J-D, Quaranta V, Horiguchi Y, Yoshiki T, Ueda M, Briggaman RA. Relative expression of four hemidesmosome-associated proteins in junctional epidermolysis bullosa, a disease of epithelial dysadhesion with known abnormal hemidesmosomes. J Cell Biol. 1991;115:34a. Abstract.
45. Jonkman MF, de Jong MCJM, Heeres K, Sonnenberg A. Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. J Invest Dermatol. 1992; 99:489-496.
46. Vailly J, Pulkkinen L, Miquel C et al. Identification of a homozygous onebasepair deletion in exon 14 of the Lamb3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol, 1995;104:462-466.
47. McGrath JA, Kivirikko S, Ciatti S, et al. A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in the fetus at risk. Genomics. 1995;29:282-284.
48. Dolan CR, Smith LT, Sybert VP. Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. Am J Med Genet. 1993;47:395-400.