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

Clinical and Experimental Dermatology

Volumn 34, Issue 8, 2009, Pages

  Saito, M ^a   Masunaga, T ^a   Ishiko, A ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7;

ARTICLE; CASE REPORT; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; INFANT; NAIL DYSTROPHY; PRIORITY JOURNAL; PROGNOSIS; PRURIGO; PRURITUS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY;

DNA MUTATIONAL ANALYSIS; DNA, RECOMBINANT; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; FEMALE; HUMANS; INFANT; PHENOTYPE; PRURIGO;

EID: 72549101174     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2009.03254.x     Document Type: Article

References (9)

1. Fine J-D, Eady RAJ, 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. 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. (Pubitemid 27473293)
3. Sakuntabhai A, Hammanmi-Hausli N, Bodemer C et al. Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. Am J Hum Genet 1998 63 : 737 748.
4. Mellerio JE, Ashton GHS, Mohammedi R et al. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 1999 112 : 984 987.
5. 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.
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.
7. Christiano AM, Suga Y, Greenspan DS et al. Strategy for identification of sequence variants in COL7A1, and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 1997 10 : 408 414.
8. Shapiro M, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987 15 : 7155 7174.
9. McGrath JA, Schofield OMV, Eady RAJ. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994 130 : 617 625.