Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family

Journal of Dermatological Science

Volumn 54, Issue 2, 2009, Pages 114-120

  Ouragini, Houyem ^a   Cherif, Faïka ^a,b   Kassar, Selma ^a,b   Floriddia, Giovanna ^c   Pascucci, Monica ^c   Daoud, Wafa ^b   Osman Dhahri, Amel Ben ^b   Boubaker, Samir ^a   Castiglia, Daniele ^c   Abdelhak, Sonia ^a  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b LA RABTA HOSPITAL   (Tunisia)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Consanguinity; Dystrophic epidermolysis bullosa; Phenotypic heterogeneity; Semidominant inheritance

Indexed keywords

ANTIBODY; COLLAGEN TYPE 7;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; COL7A1 GENE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DERMOEPIDERMAL JUNCTION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILY; FEMALE; GENE; GENE MUTATION; GENETICS; GENOTYPE; HETEROZYGOTE; HISTOLOGY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; INFANT; INHERITANCE; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POPULATION; PRIORITY JOURNAL; SCREENING; STAINING; TUNISIA;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE VII; CONSANGUINITY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUTATION; PEDIGREE; SKIN; TUNISIA; YOUNG ADULT;

EID: 63149184643     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2009.01.006     Document Type: Article

References (23)

1. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58:931-50.
2. Mitsuhashi Y., and Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Arch Dermatol Res 295 (2003) S29-S33
3. Varki R., Sadowski S., Uitto J., and Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 44 (2007) 181-192
4. Bruckner-Tuderman L. The dermo-epidermal juncture. Recent aspects of pathophysiology. Hautarzt 44 (1993) 1-4
5. Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, 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.
6. Bodemer C., Tchen S.I., Ghomrasseni S., Séguier S., Gaultier F., Fraitag S., et al. Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation. J Invest Dermatol 121 (2003) 273-279
7. Titeux M., Pendaries V., Tonasso L., Décha A., Bodemer C., and Hovnanian A. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat 29 (2008) 267-276
8. Ishiko A., Masunaga T., Ota T., and Nishikawa T. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?. Exp Dermatol 13 (2004) 229-233
9. Horn H.M., and Tidman M.J. The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 146 (2002) 267-274
10. Dang N., and Murrell D.F. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 17 (2008) 553-568
11. Sambrook J., Fritsh E.F., and Maniatis T. Molecular cloning: a laboratory manual (1989), Cold Spring Laboratory Press, Cold spring Harbor
12. Ouragini H., Cherif F., Daoud W., Kassar S., Charfeddine C., Rebaï A., et al. Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis. Arch Dermatol Res 300 (2008) 365-370
13. Posteraro P., Pascucci M., Colombi M., Barlati S., Giannetti A., Paradisi M., et al. HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa. Biochem Biophys Res Commun 338 (2005) 1391-1401
14. Dunleavey L., Beyzade S., and Ye S. Rapid genotype analysis of the matrix metalloproteinase-1 gene 1G/2G polymorphism that is associated with risk of cancer. Matrix Biol 19 (2000) 175-177
15. Weber J.L., and Wong C. Mutation of human short tandem repeats. Hum Mol Genet 2 (1993) 1123-1128
16. Dunnill M.G., Richards A.J., Milana G., Mollica F., Atherton D., Winship I., et al. Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. J Med Genet 31 (1994) 745-748
17. Whittock N.V., Ashton G.H., Mohammedi R., Mellerio J.E., Mathew C.G., Abbs S.J., 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 113 (1999) 673-686
18. Krawczak M., and Cooper D.N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86 (1991) 425-441
19. Gouya L., Puy H., Robreau A.M., Bourgeois M., Lamoril J., Da Silva V., et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 30 (2002) 27-28
20. Christiano A.M., McGrath J.A., Tan K.C., and Uitto J. 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 (1996) 671-681
21. Li Y.C., Korol A.B., Fahima T., and Nevo E. Microsatellites within genes: structure, function, and evolution. Mol Biol Evol 21 (2004) 991-1007
22. König A., and Bruckner-Tuderman L. Transforming growth factor-beta promotes deposition of collagen VII in a modified organotypic skin model. Lab Invest 70 (1994) 203-209
23. Dipple K.M., and McCabe E.R. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 71 (2000) 43-50