Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa

Laboratory Investigation

Volumn 76, Issue 2, 1997, Pages 209-217

  Tamai, Katsuto ^a   Ishida Yamamoto, Akemi ^b   Matsuo, Shinobu ^b   Iizuka, Hajime ^b   Hashimoto, Isao ^a   Christiano, Angela M ^c   Uitto, Jouni ^c   McGrath, John A ^c,d  

^a HIROSAKI UNIVERSITY   (Japan)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN ANTIBODY; COLLAGEN TYPE 7; COMPLEMENTARY DNA; MESSENGER RNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; DERMOEPIDERMAL JUNCTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; ESOPHAGUS STENOSIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; JAPAN; KERATINOCYTE; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SKIN BIOPSY; TRANSMISSION ELECTRON MICROSCOPY;

ADULT; BASE SEQUENCE; CELLS, CULTURED; COLLAGEN; EPIDERMOLYSIS BULLOSA; GENES, RECESSIVE; HUMANS; MALE; MICROSCOPY, ELECTRON; MICROSCOPY, IMMUNOELECTRON; MOLECULAR SEQUENCE DATA; MUTATION; RNA SPLICING; SKIN DISEASES;

EID: 0031052795     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Aoufouchi S, Yelamos J, and Milstein C (1996). Nonsense mutations inhibit RNA splicing in a cell-free system: Recognition of a mutant codon is independent of protein synthesis. Cell 85:415-422.
2. Bruckner-Tuderman L, Nilssen O, Zimmermann DR, DoursZimmermann MT, Kalinke DU, Gedde Dahl T Jr, and Winberg JO (1995). Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through the removal of the NC-2 domain. J Cell Biol 131:551-559.
3. Cheng J, Fogel-Petrovic M, and Maquat LE (1990). Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol 10:5215-5225.
4. Christiano AM, Anhalt G, Gibbons S, Bauer EA, and Uitto J (1994a). Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 21:160-168.
5. Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, Dietz HC, Hovnanian A, and Uitto J (1993). A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nature Genet 4:62-66.
6. Christiano AM, Hoffman G, Chung-Honet LC, Lee S, Cheng W, Uitto J, and Greenspan DS (1994c). Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene. Genomics 21:169-179.
7. Christiano AM, McGrath JA, Tan KC, and Uitto J (1996b). Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 58:671-681.
8. Christiano AM, McGrath JA, and Uitto J (1996a). Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa. J Invest Dermatol 106:766-770.
9. Christiano AM, Ryynänen M, and Uitto J (1994b). 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 91:3549-3553.
10. Christiano AM, Suga Y, Greenspan DS, Ogawa H, and Uitto J (1995). Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. J Clin Invest 95:1328-1334.
11. Christiano AM and Uitto J (1996a). Molecular diagnosis of inherited skin diseases: The paradigm of dystrophic epidermolysis bullos. Adv Dermatol 11:199-213.
12. Christiano AM and Uitto J (1996b). Molecular complexity of the basement membrane zone: Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 5:1-11.
13. Cooper DN (1993). Human gene mutations affecting RNA processing and translation. Ann Med 85:11-17.
14. Dunnill MGS, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, and Eady RAJ (1996). Clinicopathological correlations of compound heterozygous COL7A1 mutations in three unrelated patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 107:171-177.
15. Dunnill MGS, Richards AJ, Milana G, Mollica F, Eady RAJ, and Pope FM (1994). A novel homozygous point mutation in the type VII collagen gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. Hum Mol Genet 3:1693-1694.
16. Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, and Colombi M (1996). Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am J Hum Genet 59:292-300.
17. Heagerty AHM, Kennedy AR, Leigh IM, Purkis P, Eady RAJ (1986). 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 115:125-131.
18. Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, and Goossens M (1994). Recurrent non-sense mutations within type VII collagen in patients with severe mutilating recessive dystrophic epidermolysis bullosa. Am J Hum Genet 55:289-296.
19. Kennedy AR, Heagerty AHM, Ortonne J-P, Hsi B-L, Yeh C-J G, and Eady RAJ (1985). Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. Br J Dermatol 113:651-659.
20. Leigh IM, Purkis PE, and Bruckner-Tuderman L (1987). LH 7:2 monoclonal antibody detects type VII collagen in the sub-lamina densa zone of ectodermally-derived epithelia including skin. Epithelia 1:17-29.
21. Maquat LE (1995). When cells stop making sense: Effect of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465.
22. McGrath JA, Ishida-Yamamoto A, O'Grady A, Leigh IM, and Eady RAJ (1993). Structural variations in anchoring fibrils in dystrophic epidermolysis builosa: Correlation with type VII collagen expression. J Invest Dermatol 100:366-372.
23. Sambrook J, Fritsch EF, and Maniatis T (1989). Molecular cloning: A laboratory manual. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press.
24. Sanger F, Nicklen S, and Coulson AR (1977). DNA sequencing with chain-termination inhibitors. Proc Natl Acad Sci USA 74:5463-5467.
25. Shimizu H, McDonald JN, Kennedy AR, and Eady RAJ (1989). Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy. Arch Dermatol Res 281:443-448.
26. Shimizu H, McGrath JA, Christiano AM, Nishikawa T, and Ditto J (1996). Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 106: 119-124.
27. Tidman MJ and Eady RAJ (1985). Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol 84:374-377.
28. Urlaub G, Mitchell PJ, Ciudad CJ, and Chasin LA (1989). Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 9:2868-2880.