Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 114, Issue 1, 2000, Pages 204-205

  Masunaga, Takuji ^a,b   Shimizu, Hiroshi ^a   Takizawa, Yasuko ^a   Uitto, Jouni ^c   Nishikawa, Takeji ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KOS Corporation   (Japan)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7;

AMINO ACID SUBSTITUTION; CASE REPORT; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; HUMAN; IMMUNOFLUORESCENCE; LETTER; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 0034120318     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00848.x     Document Type: Letter

References (12)

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2. A.M. Christiano G. Anhalt S. Gibbons E.A. Bauer J. Uitto Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa Genomics 21 1994 160 168 10.1006/geno.1994.1238
3. 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), composed of more exons than any previously characterized gene Genomics 21 1994 169 179 10.1006/geno.1994.1239
4. A.M. Christiano J.A. McGrath J. Uitto Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa J Invest Dermatol 106 1996 766 770
5. 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
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8. J.E. Mellerio J.C. Salas-Alanis M.L. Talamantes A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa Br J Dermatol 139 1998 730 737
9. R. Mohammedi J.E. Mellerio G.H.S. Ashton R.A.J. Eady J.A. McGrath A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa Clin Exp Dermatol 24 1999 37 39
10. 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
11. H. Shimizu A. Ishiko T. Masunaga Y. Kurihara M. Sato L. Bruckner-Tuderman T. Nishikawa Most anchoring fibrils in human skin originate and terminate in the lamina densa Lab Invest 76 1997 753 763
12. K. Tamai T. Murai M. Mayama Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity J Invest Dermatol 112 1999 991 993 10.1046/j.1523-1747.1999.00601.x