Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity [1]

Journal of Investigative Dermatology

Volumn 112, Issue 6, 1999, Pages 991-993

  Tamai, K ^a   Murai, T ^a   Mayama, M ^a   Kon, A ^a   Nomura, K ^a   Sawamura, D ^a   Hanada, K ^a   Hashimoto, I ^a   Shimizu, H ^a   Masunaga, T ^a   Nishikawa, T ^a   Mitsuhashi, Y ^a   Ishida Yamamoto, A ^a   Ikeda, S ^a   Ogawa, H ^a   McGrath, J A ^a   Pulkkinen, L ^a   Uitto, J ^a  

^a HIROSAKI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GENE PRODUCT; PROTEIN COL7A1; UNCLASSIFIED DRUG;

ALLELE; CANCER SCREENING; CLINICAL FEATURE; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; HUMAN; HUMAN TISSUE; LETTER; PRIORITY JOURNAL; SQUAMOUS CELL CARCINOMA; STOP CODON;

EID: 0033040811     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00601.x     Document Type: Letter

References (12)

1. A.M. Christiano G.G. Hoffman X. Zhang Y. Xu Y. Tamai D.S. Greenspan J. Uitto Strategy for identification of sequence variants in COL7A1, and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa Human Mut 10 1997 408 414
2. A.M. Christiano Y. Suga D.S. Greenspan H. Ogawa J. Uitto Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa J Clin Invest 95 1995 1328 1334
3. A.M. Christiano J. Uitto Impact of molecular genetic diagnosis on dystrophic epidermolysis bullosa Current Opinion Dermatol 3 1996 225 232
4. A.M. Christiano J. Uitto Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa Exp Derm 5 1996 1 11
5. J.-D. Fine E.A. Bauer R.A. Briggaman Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry J Am Acad Dermatol 24 1991 119 135
6. A. Hovnanian A. Rochat C. Bodemer Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation Am J Hum Genet 61 1997 599 610
7. J.A. McGrath A. Ishida-Yamamoto A. O’Grady I.M. Leigh R.A.J. Eady Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression J Invest Dermatol 100 1993 366 372
8. L.Y. Sakai D.R. Keene N.P. Morris R.E. Burgeson Type VII collagen is a major structural component of anchoring fibrils J Cell Biol 103 1986 1577 1586
9. H. Shimizu J.A. McGrath A.M. Christiano T. Nishikawa J. Uitto Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity J Invest Dermatol 106 1996 119 124
10. K. Tamai A. Ishida-Yamamoto S. Matsuo Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa Lab Invest 76 1997 209 217
11. J. Uitto A.M. Christiano Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases J Clin Invest 90 1992 687 692
12. J. Uitto L. Pulkkinen A.M. Christiano The Molecular Basis of the Dystrophic Forms of Epidermolysis Bullous J.-D. Fine Epidermolysis Bullosa 1999 Johns Hopkins University Press Baltimore, MD in press