Genetic basis of Bart's syndrome: A glycine substitution mutation in the type VII collagen gene

Journal of Investigative Dermatology

Volumn 106, Issue 6, 1996, Pages 1340-1342

  Christiano, A M ^a   Bart, B J ^a   Epstein Jr , E H ^a   Uitto, J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

anchoring fibrils; cutaneous basement membrane zone; dominant dystrophic epidermolysis bullosa; type VII collagen gene mutations

Indexed keywords

COLLAGEN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILIAL DISEASE; HUMAN; MUTATION; PRIORITY JOURNAL;

EID: 0029971858     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12349293     Document Type: Article

References (17)

1. B.J. Bart Epidermolysis bullosa and congenital localized absence of the skin Arch Dermatol 101 1970 78 81
2. B.J. Bart R.J. Gorlin V.E. Anderson F.W. Lynch Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome Arch Dermatol 93 1966 296 304
3. A.M. Christiano D.S. Greenspan S. Lee J. Uitto Cloning of human type VII collagen. Complete primary sequence of the α 1 (VII) chain and identification of intragenic polymorphisms J Biol Chem 269 1994 20256 20262
4. A.M. Christiano G.G. Hoffman L.C. Chung-Honet S. Lee W. Cheng J. Uitto D.S. Greenspan Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene Genomics 21 1994 169 179
5. A.M. Christiano M. Ryynänen J. Uitto Dominant dystrophic epidermolysis bullosa: identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen Proc Natl Acad Sci USA 91 1994 3549 3553
6. 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
7. A.M. Christiano A. Morricone M. Paradisi C. Angelo C. Mazzanti R. Cavalieri J. Uitto A glycine-to-arginine substitution in the triple helical domain of type VII collagen J Invest Dermatol 104 1995 438 440
8. A.M. Christiano J.Y.-Y. Lee W.J. Chen S. LaForgia J. Uitto Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VIl collagen Hum Mol Genet 4 1995 1579 1583
9. A. Ganguly M. Rock D.J. Prockop 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 USA 90 1993 10325 10329
10. M.H. Kanzler B. Smoller D.T. Woodley Congenital localized absence of the skin as a manifestation of epidermolysis bullosa Arch Dermatol 128 1992 1087 1090
11. M.G. Parente L.C. Chung J. Ryynänen D.T. Woodley K.C. Wynn E.A. Bauer M.-G. Mattei M.-L. Chu J. Uitto Human type VII collagen: cDNA cloning and chromosomal mapping of the gene Proc Natl Acad Sci USA 88 1991 6931 6935
12. J. Sambrook E.F. Fritsch T. Maniatis Molecular Cloning. A Laboratory Manual 1989 Cold Spring Laboratory Press Cold Spring Harbor, NY
13. I. Skoven K.T. Drzewiecki Congenital localized skin defect and epidermolysis bullosa hereditaria letalis Acta Derm Venerol (Stockh) 59 1979 533 537
14. S.Z. Smith D.L. Cram A mechanobullous disease of the newborn: Bart's syndrome Arch Dermatol 114 1978 81 84
15. J. Uitto A.M. Christiano Dystrophic forms of epidermolysis bullosa Semin Dermatol 12 1993 191 201
16. F.T. Wojnarowska R.A.J. Eady R.S. Wells Dystrophic epidermolysis bullosa presenting with congenital localized absence of the skin: report of four cases Br J Dermatol 108 1983 477 483
17. B. Zelickson K. Matsumara D. Kist E.H. Epstein B.J. Bart Bart's syndrome: ultrastructure and genetic linkage Arch Dermatol 131 1995 663 668