A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa

Clinical and Experimental Dermatology

Volumn 29, Issue 3, 2004, Pages 304-307

  Chuang, G S ^a   Martinez Mir, A ^a   Yu, H S ^c   Sung, F Y ^b   Chuang, R Y ^a   Cserhalmi Friedman, P B ^a   Christiano, A M ^a  

^a College of Physicians and Surgeons ^*  (United States)

^b Jen Ai Municipal Hospital   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GLYCINE; IMMUNOGLOBULIN E; NUCLEOTIDE; VALINE;

ADULT; ARTICLE; CASE REPORT; DIAGNOSTIC APPROACH ROUTE; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA PRURIGINOSA; EXON; FEMALE; GENE SEQUENCE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MISMATCH REPAIR; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SIBLING; SYMPTOMATOLOGY;

BASE SEQUENCE; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 2442712804     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01495.x     Document Type: Article

References (20)

1. Uitto J, Christiano AM. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 1992; 90: 687-92.
2. McGrath JA, Schofield OM, Eady RA. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617-25.
3. Lee JY, Pulkkinen L, Liu HS et al. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 1997; 108: 947-9.
4. Mellerio JE, Ashton GH, Mohammedi R et al. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 1999; 112: 984-7.
5. Christiano AM, Greenspan DS, Lee S et al. Cloning of human type VII collagen. Complete primary sequence of the α1 (VII) chain chain and identification of intragenic polymorphisms. J Biol Chem 1994; 269: 20256-62.
6. Christiano AM, Hoffman GG, Chung-Honet LC et al. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics 1994; 21: 169-79.
7. Bruckner-Tuderman L. Hereditary skin diseases of anchoring fibrils. J Dermatol Sci 1999; 20: 122-33.
8. Christiano AM, Ryynanen M, Uitto J. Dominant dystrophic epidermolysis bullosa. Identification of a Gly → Ser substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci USA 1994; 91: 3549-53.
9. Christiano AM, Lee JY, Chen WJ et al. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum Mol Genet 1995; 4: 1579-83.
10. Christiano AM, Morricone A, Paradisi M et al. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. J Invest Dermatol 1995; 104: 438-40.
11. Christiano AM, Anton-Lamprecht I, Amano S et al. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Am J Hum Genet 1996; 58: 682-93.
12. Christiano AM, McGrath JA, Tan KC et al. 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 1996; 58: 671-81.
13. Kao JS, Sheu HM, Yu HS. Pretibial Epidermolysis Bullosa - A Case Report. Derm Sinica 1988; 6: 175-83.
14. Yamasaki H, Tada J, Yoshioka T et al. Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. Br J Dermatol 1997; 137: 308-10.
15. Hashimoto I, Kon A, Tamai K et al. Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? Exp Dermatol 1999; 8: 140-2.
16. Tamai K, Hashimoto I, Murai T et al. Particular mutations in exon 85 of type VII collagen gene (COL7A1) induce severe itch: specific glycine substitutions for dominant forms of epidermolysis bullosa pruriginosa. J Invest Dermatol 1998; 111: A509.
17. Jonkman MF, Moreno G, Oranje AP et al. Unusual dominant dystrophic epidermolysis bullosa phenotype caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). J Invest Dermatol 1998; 110: A511.
18. Chen X, Li G, Zhu X. [Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family]. Zhonghua Yi Xue Za Zhi 2000; 80: 869-71.
19. Murata T, Masunaga T, Shimizu H et al. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Arch Dermatol Res 2000; 292: 477-81.
20. Jiang W, Bu D, Yang Y et al. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venereol 2002; 82: 187-91.