High frequency of the 425A → G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: Significance for future mutation detection strategies in dystrophic epidermolysis bullosa

British Journal of Dermatology

Volumn 152, Issue 5, 2005, Pages 879-886

  Csikós, Márta ^a   Szocs, H I ^a   Laszik A ^a   Mecklenbeck, S ^b   Horvath A ^a   Karpati S ^a   Bruckner Tuderman, L ^c  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

COL7A1; Dystrophic epidermolysis bullosa; Genotype phenotype; Recurrent mutation; Type VII collagen

Indexed keywords

COLLAGEN TYPE 7;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; COL7A1 GENE; CONTROLLED STUDY; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EUROPE; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERMANY; HETERODUPLEX ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HUNGARY; IMMUNOFLUORESCENCE; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION MAPPING; SCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE VII; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPITOPE MAPPING; EUROPE; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SKIN;

EID: 18944362110     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06542.x     Document Type: Article

References (30)

1. Christiano AM, Hoffman GG, Zhang X et al. A strategy for identification of sequence variants in COLJA1, and a novel 2 bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 1997; 10:408-14.
2. Fine JD, Eady RAJ, 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.
3. Christiano AM, Greenspan DS, Lee S et al. Cloning of human type VII collagen: complete primary sequence of the α1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 1994; 269:20256-62.
4. Whittock NV, Ashton GHS, Mohammedi R et al. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 1999; 113:673-86.
5. Mecklenbeck S, Hammami-Hauasli N, Höpfner B et al. Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. J Invest Dermatol 1999; 112:398-400.
6. Christiano AM, D'Alessio M, Paradisi M et al. A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1996; 106:679-84.
7. Ashton GHS, Mellerio JE, Dunnill MGS et al. Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosi. Clin Exp Dermatol 1999; 24:232-5.
8. Gardella R, Zoppi N, Ferraboli S et al. Three homozygous PTC mutations in the collagen VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts. Hum Mutat 1999; 13:439-52.
9. Mellerio JE, Dunnill MGS, Allison W et al. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. J invest Dermatol 1997; 109:246-9.
10. Salas-Alains JC, Amaya-Guerra M, McGrath J. The molecular basis of dystrophic epidermolysis bullosa in Mexico. Int J Dermatol 2000; 39:439-42.
11. Tamai K, Murai T, Mayama M et al. Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. J Invest Dermatol 1999; 112:991-3.
12. Csikós M, Orosz Z, Bottlik G et al. Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. Clin Exp Dermatol 2003; 28:163-6.
13. Hammami-Hauasli N, Kalinke UD, Schumann H et al. A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin. J Invest Dermatol 1997; 109:384-9.
14. Zimmer KP, Schumann H, Mecklenbeck S et al. Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations. Gastroenterolooy 2002; 122:220-5.
15. Bruckner-Tuderman L, Nilssen O, Zimmermann DR et al. Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain. J Cell Biol 1995; 131:551-9.
16. Nishizawa Y, Uematsu J, Owaribe K. HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome. J Biochem 1993; 113:493-7.
17. Rousselle P, Lunstrum GP, Keene DR, Burgeson RE. Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol 1991; 114:567-76.
18. Marinkovich MP, Lunstrum GP, Burgeson RE. The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor. J Biol Chem 1992; 267:1790-6.
19. Verrando P, Hsi BL, Yeh CJ et al. Monoclonal antibody GB3, a new probe for the study of human basement membranes and hemidesmosomes. Exp Cell Res 1987; 170:116-28.
20. Sonnenberg A, Calafat J, Janssen H et al. Integrin α6/β4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell basement membrane adhesion. J Cell Biol 1991; 113:907-17.
21. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Add Res 1988; 16:1215.
22. Ganguly A, Rock JM, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent induced bands in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90:10325-9.
23. Gardella R, Belletti L, Zoppi N et al. 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 1996; 59:292-300.
24. Hammami-Hauasli N, Schumann H, Raghunath M et al. Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. J Biol Chem 1998; 272:19228-34.
25. Cserhalmi-Friedman PB, Kárpáti S, Horváth A et al. Identification of a glycine substitution and a splice site mutation site in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. Arch Dermatol Res 1997; 289:640-5.
26. Dunnill MGS, McGrath JA, Richards AJ et al. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1996; 107:171-7.
27. Hovnanian A, Rochat A, Bodemer C et al. 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 1997; 61:599-610.
28. Kon A, Pulkkinen L, Ishida-Yamamoto A et al. Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 1998; 111:534-7.
29. Splice View-Splice Prediction by using Consensus Sequences (http://125.itba.mi.cnr.it/~webgene/wwwspliceview.html).
30. The Analysis of DNA/RNA Sequences: NetGene2 Web Site (http:// 130.225.67.199/services/NetGene2/).