Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy

Clinical and Experimental Dermatology

Volumn 28, Issue 1, 2003, Pages 53-60

  Bauer, Johann W ^a   Lanschuetzer, C ^a  

^a St Johanns Spital   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17;

ARTICLE; BULLOUS SKIN DISEASE; DISEASE SEVERITY; EARLY DIAGNOSIS; EPIDERMOLYSIS BULLOSA; EXON; GENE MUTATION; GENE TARGETING; GENE THERAPY; HUMAN; KERATINOCYTE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

ALOPECIA; AUTOANTIGENS; CARRIER PROTEINS; COLLAGEN; CYTOSKELETAL PROTEINS; DENTAL ENAMEL HYPOPLASIA; EPIDERMOLYSIS BULLOSA; GENE THERAPY; GENOTYPE; HUMANS; MODELS, GENETIC; MUTATION; NERVE TISSUE PROTEINS; NON-FIBRILLAR COLLAGENS; PHENOTYPE; RNA SPLICING;

EID: 0037272530     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.2003.01192.x     Document Type: Article

References (50)

1. Fine J, Bauer E, McGuire J, Moshell A, eds. Epidermolysis Bullosa. Baltimore and London: Johns Hopkins University Press, 1999.
2. Pohla-Gubo G, Lazarova Z, Giudice GJ et al. 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 1995; 4: 199-206.
3. 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: 1345-52.
4. 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: 83-6.
5. McGrath JA, Pulkkinen L, Christiano AM et al. Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1995; 104: 467-74.
6. Fine JD, Eady RA, Bauer EA et al. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000; 42: 1051-66.
7. Gatalica B, Pulkkinen L, Li K et al. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 1997; 60: 352-65.
8. Hintner H, Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch Derm 1982; 118: 375-84.
9. Bauer JW, Schaeppi H, Kaserer C et al. Large melanocytic nevi in hereditary epidermolysis bullosa. J Am Acad Dermatol 2001; 44: 577-84.
10. Darling TN, Bauer JW, Hintner H, Yancey KB. Generalized atrophic benign epidermolysis bullosa. Adv Dermatol 1997; 13: 87-119.
11. Huber M, Floeth M, Borradori L et al. Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. J Invest Dermatol 2002; 118: 185-92.
12. Guerriero C, De Simone C, Venier A et al. Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency. Dermatology 2001; 202: 58-62.
13. Schumann H, Hammami-Hauasli N, Pulkkinen L et al. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet 1997; 60: 1344-53.
14. Tasanen K, Floeth M, Schumann H, Bruckner-Tuderman L. Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. J Invest Dermatol 2000; 115: 207-12.
15. Mazzanti C, Gobello T, Posteraro P et al. 180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. Br J Dermatol 1998; 138: 859-66.
16. Ruzzi L, Pas H, Posteraro P et al. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2001; 116: 182-7.
17. McGrath JA, Gatalica B, Li K et al. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol 1996; 148: 1787-96.
18. Bohaty B, Spencer P, Dunlap C, Wandera A. Epidermolysis bullosa: case report of appropriate classification of subtype because of an early dental exam. J Clin Pediatr Dent 1998; 22: 243-5.
19. Seitz CS, Giudice GJ, Balding SD et al. BP180 gene delivery in junctional epidermolysis bullosa. Gene Ther 1999; 6: 42-7.
20. Dunnwald M, Tomanek-Chalkley A, Alexandrunas D et al. Isolating a pure population of epidermal stem cells for use in tissue engineering. Exp Dermatol 2001; 10: 45-54.
21. Kolodka TM, Garlick JA, Taichman LB. Evidence for keratinocyte stem cells in vitro: long term engraftment and persistence of transgene expression from retrovirus-transduced keratinocytes. Proc Natl Acad Sci USA 1998; 95: 4356-61.
22. Guerra L, Capurro S, Melchi F et al. Treatment of 'stable' vitiligo by Timedsurgery and transplantation of cultured epidermal autografts. Arch Dermatol 2000; 136: 1380-9.
23. Jonkman MF, Scheffer H, Stulp R et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997; 88: 543-51.
24. Darling TN, Yee C, Bauer JW et al. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J Clin Invest 1999; 103: 1371-7.
25. McGrath JA, Ashton GH, Mellerio JE et al. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing nonsense or frameshift mutations. J Invest Dermatol 1999; 113: 314-21.
26. Lacerra G, Sierakowska H, Carestia C et al. Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients. Proc Natl Acad Sci USA 2000; 97: 9591-6.
27. Pulkkinen L, Marinkovich MP, Tran HT et al. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1999; 113: 1114-18.
28. van Leusden MR, Pas HH, Gedde-Dahl T Jr et al. Truncated type XVII collagen expression in a patient with non-Herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. Laboratory Invest 2001; 81: 887-94.
29. Hofmann Y, Lorson CL, Stamm S et al. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 2000; 97: 9618-23.
30. Lan N, Howrey RP, Lee SW et al. Ribozyme-mediated repair of sickle β-globin mRNAs in erythrocyte precursors. Science 1998; 280: 1593-6.
31. Puttaraju M, Jamison SF, Mansfield SG et al. Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat Biotechnol 1999; 17: 246-52.
32. Mansfield SG, Kole J, Puttaraju M et al. Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing. Gene Ther 2000; 7: 1885-95.
33. Liu X, Jiang Q, Mansfield SG et al. Partial correction of endogenous DeltaF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing. Nat Biotechnol 2002; 20: 47-52.
34. Dallinger G, Puttaraju M, Mitchell LG et al. Development of spliceosome mediated RNA trans-splicing (SMaRT™) for the correction of inherited skin diseases. Exp Dermatol 2002.
35. Jonkman MF, de Jong MC, Heeres K et al. Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Arch Dermatol 1996; 132: 145-50.
36. McGrath J, Darling T, Gatalica B et al. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1996; 106: 771-4.
37. Darling TN, McGrath JA, Yee C et al. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997; 108: 463-8.
38. Scheffer H, Stulp RP, Verlind E et al. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa. Hum Genet 1997; 100: 230-5.
39. Floeth M, Fiedorowicz J, Schacke H et al. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. J Invest Dermatol 1998; 111: 528-33.
40. Shimizu H, Takizawa Y, Pulkkinen L et al. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. J Invest Dermatol 1998; 111: 887-92.
41. Pulkkinen L, Uitto J. Hemidesmosomal variants of epidermolysis bullosa. Mutations in the α6β4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. Exp Dermatol 1998; 7: 46-64.
42. Mellerio JE, Denyer JE, Atherton DJ et al. Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa. Br J Dermatol 1998; 138: 661-6.
43. Chavanas S, Gache Y, Tadini G et al. A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997; 109: 74-8.
44. Darling TN, Yee C, Koh B et al. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1998; 110: 165-9.
45. Wu Y, Li G, Zhu X. A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. J Dermatol Sci 2002; 28: 181-6.
46. Floeth M, Bruckner-Tuderman L. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am J Hum Genet 1999; 65: 1530-7.
47. Robbins P, Lin Q, Goodnough JB et al. In vivo restoration of laminin 5β3 expression and function in junctional epidermolysis bullosa. Proc Natl Acad Sci USA 2001; 9: 5193-8.
48. Dellambra E, Vailly J, Pellegrini G et al. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa. Hum Gene Ther 1998; 9: 1359-70.
49. Dellambra E, Prislei S, Salvati AL et al. Gene correction of integrin β4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for β4 tyrosines 1422 and 1440 in hemidesmosome assembly. J Biol Chem 2001; 276: 41336-42.
50. Compton S, Mecklenbeck S, Meija J et al. Stable integration of large (>100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system. Gene Ther 2000; 7: 1600-5.