Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype

International Journal of Dermatology

Volumn 45, Issue 3, 2006, Pages 302-305

  Shibusawa, Y ^a   Negishi, I ^a   Ishikawa, O ^a  

^a GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GUANINE NUCLEOTIDE; PYRIMIDINE NUCLEOTIDE;

ARTICLE; BLISTER; CASE REPORT; DISEASE SEVERITY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; FIBER; FINGER MALFORMATION; FINGER NAIL; FOOT MALFORMATION; GENE LOCATION; HETEROZYGOSITY; HUMAN; JAPAN; MALE; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN ASSEMBLY; PROTEIN DOMAIN; RECESSIVE INHERITANCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SCAR FORMATION; SIBLING; STOP CODON;

CHILD, PRESCHOOL; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; HETEROZYGOTE; HUMANS; INFANT; JAPAN; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 33644753852     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2006.02774.x     Document Type: Article

References (15)

1. Fine JD, Eady RA, 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: 1051-1066.
2. McGrath J.A., Ishida-Yamamoto A., O'Grady A., et al. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa. J Invest Dermatol 1993; 100: 366-372.
3. Uitto J, Christiano AM. Molecular basis for the dystrophic forms of epidermolysis bullosa: Mutations in the type VII collagen gene. Arch Dermatol Res 1994; 287: 16-22.
4. Uitto J, Pulkkinen L, Christiano AM. The molecular basis of the dystrophic forms of epidermolysis bullosa. In: Fine JD, Bauer EA, Bauer EA, et al. eds. Epidermolysis Bullosa. Baltimore: The John Hopkins University Press, 1999: 326-350.
5. Jarvikallio A, Pulkkinen L, Uitto J. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1). Hum Mutat 1997; 10: 338-347.
6. Christiano AM, Anhalt G, Gibbons S, et al. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 1994; 21: 160-168.
7. 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: 991-993.
8. Christiano AM, Hoffman GG, Zhang X, et al. Strategy for Identification of sequence variants in COL7A1 and a novel 2bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 1997; 10: 408-414.
9. Uitto J, Richard G. Progress in epidermolysis bullosa: Genetic classification and clinical implications. Am J Med Genet C Semin Med Genet 2004; 131: 61-74.
10. Tamai K, Ishida-Yamamoto A, Matsuo S, et al. Compound heterozygosity for a nonsense mutation and a splicing site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Lab Invest 1997; 76: 209-217.
11. Christiano AM, LaForgia S, Paller AS, et al. Prenatal diagnosis for recessive dystrophic epidermal bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med 1996; 2: 59-76.
12. Lunstrum GP, Sakai LY, Keene DR, et al. Large complex globular domains of type VII procollagen contribute to the structure of anchoring fibrils. J Biol Chem 1986; 261: 9042-9048.
13. Burgeson RE. Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol 1993; 101: 252-255.
14. 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: 551-559.
15. Rattenholl A, Pappano WN, Koch M, et al. Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen. J Biol Chem 2002; 277: 26372-26378.