COL7A1 recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: Pruriginosa versus nails only

Dermatology

Volumn 222, Issue 1, 2011, Pages 10-14

  Pruneddu, Sara ^a   Castiglia, Daniele ^b   Floriddia, Giovanna ^b   Cottoni, Francesca ^a   Zambruno, Giovanna ^b  

^a UNIVERSITY OF SASSARI   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Dystrophic epidermolysis bullosa; Epidermolysis bullosa pruriginosa; Missense mutations; Mutation detection; nails only variant

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; COL7A1 GENE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NAIL; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PRURIGO; RECESSIVE INHERITANCE; SIBLING;

AGED; ALLELES; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; LEG DERMATOSES; MALE; MUTATION, MISSENSE; NAIL DISEASES; PEDIGREE; PRURITUS; SIBLINGS; TOES;

EID: 79951674166     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000322619     Document Type: Article

References (21)

1. Fine JD, Eady RAJ, Bauer EA, 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;58:931-950.
2. Dang N, Murrell DF: Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008;17:553-568.
3. McGrath JA, Schofield OM, Eady RA: Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994;130:617-625. (Pubitemid 24204699)
4. Almaani N, Liu L, Harrison N, et al: New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix met al.loproteinase-1 gene promoter. Acta Derm Venereol 2009;89:6-11.
5. Posteraro P, Pascucci M, Colombi M, et al: Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa. Biochem Biophys Res Commun 2005;338:1391-1401. (Pubitemid 41608406)
6. Drera B, Castiglia D, Zoppi N, et al: Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet 2006;70:339-347. (Pubitemid 44323401)
7. Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L: Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 2008;159:464-469. (Pubitemid 352009874)
8. Saito M, Masunaga T, Ishiko A: A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa. Clin Exp Dermatol 2009;34: e934-e936.
9. Rapoport TA: Protein translocation across the eukaryotic endoplasmic reticulum and bacterial plasma membranes. Nature 2007;450:663-669. (Pubitemid 350207698)
10. Hammami-Hauasli N, Shumann 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;273:19228-19234. (Pubitemid 28366322)
11. 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;8:140-142. (Pubitemid 29191368)
12. Sawamura D, Goto M, Yasukawa K, et al: Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. J Hum Genet 2005;50:543-546 (Pubitemid 41571171)
13. (erratum published in J Hum Genet 2006;51:839).
14. Chuang GS, Martinez-Mir A, Yu HS, et al: A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. Clin Exp Dermatol 2004;29:304-307. (Pubitemid 38658477)
15. Persikov AV, Pillitteri RJ, Amin P, et al: Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat 2004;24:330-337. (Pubitemid 39336639)
16. Dharma B, Moss C, McGrath JA, Mellerio JE, Ilchyshyn A: Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. Clin Exp Dermatol 2001;26:93-96. (Pubitemid 32204855)
17. Sato-Matsumura KC, Yasukawa K, Tomita Y, Shimizu H: Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. Arch Dermatol 2002;138:269-271. (Pubitemid 34160412)
18. Nakamura H, Sawamura D, Goto M, et al: The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci 2004;34:195-20 0. (Pubitemid 38543002)
19. Escámez MJ, García M, Cuadrado-Corrales N, et al: The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. Br J Dermatol 2010;163:155-161.
20. Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L: Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol 1998;111:1214-1219. (Pubitemid 29115202)
21. Shimizu H, Hammami-Hauasli N, Hatta N, Nishikawa T, Bruckner-Tuderman L: Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. J Invest Dermatol 1999;113:419-421. (Pubitemid 29449084)