Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: A new dominant or mitis recessive mutation?

Experimental Dermatology

Volumn 8, Issue 2, 1999, Pages 140-142

  Hashimoto, I ^a   Kon, A ^a   Tamai, K ^a   Uitto, Jouni ^b  

^a HIROSAKI UNIVERSITY   (Japan)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Epidermolysis bullosa; Genetic counseling; Type VII collagen mutations

Indexed keywords

COLLAGEN TYPE 4; GLYCINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL INHERITANCE; CASE REPORT; CLINICAL FEATURE; DERMOEPIDERMAL JUNCTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILIAL INCIDENCE; FOOT; GENE MUTATION; GENETIC COUNSELING; GENODERMATOSIS; HAND; HUMAN; KERATINOCYTE; MALE; MISSENSE MUTATION; RECURRENCE RISK; SCAR FORMATION; SCHOOL CHILD;

EID: 0032956369     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1999.tb00362.x     Document Type: Article

References (17)

1. Fine J D, Bauer E A, Briggaman R A et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J Am Acad Dermatol 1991: 24: 119-135.
2. Christiano A M, Uitto J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 1996: 5: 1-11.
3. Corden L D, McLean W H I. Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 1996: 5: 297-307.
4. Pulkkinen L, Uitto J, Christiano A M. The molecular basis of the junctional forms of epidermolysis bullosa. In: Fine J-D, Bauer A, McGuire J, Moshell A, eds. epidermolysis bullosa: clinical, epidemiologic and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore, MD: The Johns Hopkins University Press: (In press).
5. 4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. Exp Dermatol 1998: 7: 46-64.
6. Christiano A M, Uitto J. Molecular diagnosis of inherited skin diseases: The paradigm of dystrophic epidermolysis bullosa. Adv Dermatol 1996: 11: 199-214.
7. Järvikallio 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.
8. McGrath J A, Ishida-Yamamoto A, O'Grady A, Leigh I M. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: Correlation with type VII collagen expression. J Invest Dermatol 1993: 100: 366-372.
9. Bruckner-Tuderman L. Collagens of the dermo-epidermal junction: Role in bullous disorders. Eur J Dermatol 1991: 1: 89-100.
10. Christiano A M, Uitto J. Molecular genetic diagnosis of blistering skin diseases: Impact on dystrophic epidermolysis bullosa. Curr Opin Dermatol 1996: 3: 225-232.
11. Tamai K, Murai T, Shimizu H et al. Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa. Submitted for publication.
12. Kon A, McGrath J A, Pulkkinen L et al. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa. Implications for genetic counseling. J Invest Dermatol 1997: 108: 224-228.
13. Parente G M, Chung L, Ryynänen J et al. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci USA 1991: 33: 6931-6935.
14. Christiano A M, McGrath J A, Tan K C, 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 Human Genet 1996: 58: 671-681.
15. Christiano A M, Ryynänen M, Uitto J. 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 1994: 91: 3549-3553.
16. Rantamäki T, Kaitila I, Syvänen A-C, Lukka M, Peltonen L. Recurrence of Marfan syndrome due to maternal germline mosaicism for a FBN1 mutation. Am J Hum Genet 1998 (In press).
17. Rouan F, Pulkkinen L, Jonkman M F et al. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling. J Invest Dermatol 1998: 111: 1210-1213.