An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred

Pediatric Dermatology

Volumn 29, Issue 6, 2012, Pages 725-731

  Yang, Catherine S ^a   Lu, Yin ^a   Farhi, Anita ^a   Nelson Williams, Carol ^a   Kashgarian, Michael ^a   Glusac, Earl J ^a   Lifton, Richard P ^a   Antaya, Richard J ^a   Choate, Keith A ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; COLLAGEN TYPE 7A1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLISTER; CASE REPORT; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA PRURIGINOSA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTRON; LICHENOID PAPULE; PAPULE; PHENOTYPE; PRIORITY JOURNAL; PRURITUS;

COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PENETRANCE; PHENOTYPE; SKIN; YOUNG ADULT;

EID: 84868200181     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2012.01757.x     Document Type: Article

References (32)

1. McGrath J, Schofield O, Eady R,. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617-625.
2. Almaani N, Liu L, Perez A, et al., Epidermolysis bullosa pruriginosa in association with lichen planopilaris. Clin Exp Dermatol 2009; 34: e825-e828.
3. Drera B, Castiglia D, Zoppi N, et al., Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet 2006; 70: 339-347.
4. Ee H, Liu L, Goh C, et al., Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. J Am Acad Dermatol 2007; 5 (Suppl): S77-S81.
5. Hayashi M, Kawaguchi M, Hozumi Y, et al., Dystrophic epidermolysis bullosa pruriginosa of elderly onset. J Dermatol 2011; 38: 173-178.
6. 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: 477-481.
7. Schumann H, Has C, Kohlhase J, et al., Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 2008; 159: 464-469.
8. Dang N, Murrell D,. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17: 553-568.
9. Mellerio J, Ashton G, Mohammedi R, et al., Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 1999; 112: 984-987.
10. Nagy N, Tanaka A, Techanukul T, et al., Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. Acta Derm Venereol 2010; 90: 631-632.
11. Broekaert S, Knauss-Scherwitz E, Biedermann T, et al., Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. Acta Derm Venereol 2006; 86: 556-557.
12. Nakamura H, Sawamura D, Goto M, et al., The G2028R glycine substitution mutation in leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci 2004; 34: 195-200.
13. Pruneddu S, Castiglia D, Floriddia G, et al., COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. Dermatology 2011; 222: 10-14.
14. Chuang G, Martinez-Mir A, Yu H, et al., A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. Clin Exp Dermatol 2004; 29: 304-307.
15. Lapinski P, Lapiere JC, Traczyk T, et al., Sporadic dystrophic epidermolysis bullosa with concomitant atopic dermatitis. Br J Dermatol 1998; 138: 315-320.
16. 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 metalloproteinase-1 gene promoter. Acta Derm Venereol 2009; 89: 6-11.
17. Sandilands A, Terron-Kwiatkowski A, Hull P, et al., Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007; 39: 650-654.
18. Titeux M, Pendaries V, Tonasso L, et al., A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat 2008; 29: 267-276.
19. Banky JP, Sheridan AT, Storer EL, et al., Successful treatment of epidermolysis bullosa pruriginosa with topical tacrolimus. Arch Dermatol 2004; 140: 794-796.
20. Yamasaki H, Tada J, Yoshioka T, et al., Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. Br J Dermatol 1997; 137: 308-310.
21. Ozanic Bulic S, Fassihi H, Mellerio JE, et al., Thalidomide in the management of epidermolysis bullosa pruriginosa. Br J Dermatol 2005; 152: 1332-1334.
22. Lee J, Pulkkinen L, Liu H, 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: 947-949.
23. Dang N, Klingberg S, Marr P, et al., Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. J Dermatol Sci 2007; 46: 169-178.
24. Shi B, Feng J,. A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. Clin Exp Dermatol 2009; 34: e975-e978.
25. 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: 187-191.
26. Wang Y, Zhao J, Tu P, et al., A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa. J Dermatol Sci 2007; 46: 211-213.
27. Ren X, Liu JY, Zhai LY, et al., A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa. Br J Dermatol 2008; 158: 618-620.
28. Chung HJ, Uitto J,. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin 2010; 28: 93-105.
29. Jiang W, Sun TT, Lei PC, et al., Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venereol 2012; 92: 50-53.
30. Tey HL, Lee AD, Almaani N, et al., Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus. Arch Dermatol 2011; 147: 956-960.
31. Murase K, Kanoh H, Ishii N, et al., Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation. Acta Derm Venereol 2011; 91: 730-731.
32. Covaciu C, Grosso F, Pisaneschi E, et al., A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. Br J Dermatol 2011; 165: 678-682.