A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing

British Journal of Dermatology

Volumn 165, Issue 3, 2011, Pages 678-682

  Covaciu, C ^a   Grosso, F ^a   Pisaneschi, E ^b   Zambruno, G ^a   Gregersen, P A ^c   Sommerlund, M ^c   Hertz, J M ^d   Castiglia, D ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

COL7A1 PROTEIN; COLLAGEN TYPE 7; PREDNISOLONE; STEROID; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; DOMINANT GENE; DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA; EPIDERMOLYSIS BULLOSA; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; EXON SKIPPING; FEMALE; GENE CONSTRUCT; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; PREDICTION; PRIORITY JOURNAL; PRURITUS; RECESSIVE GENE; REGULATORY RNA SEQUENCE; RNA SPLICING; SEGREGATION ANALYSIS;

ADOLESCENT; ADULT; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; FEMALE; FOUNDER EFFECT; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RNA SPLICING;

EID: 80052260335     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10414.x     Document Type: Article

References (17)

1. Fine J-D, 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: 931-50.
2. McGrath JA, Schofield OM, Eady RA,. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617-25. (Pubitemid 24204699)
3. Drera B, Castiglia D, Zoppi N, et al. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet 2006; 70: 339-47. (Pubitemid 44323401)
4. 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: 464-9. (Pubitemid 352009874)
5. 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.
6. Wessagowit V, Nalla VK, Rogan PK, McGrath JA,. Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases. J Dermatol Sci 2005; 40: 73-84. (Pubitemid 41446205)
7. Solis AS, Shariat N, Patton JG,. Splicing fidelity, enhancers, and disease. Front Biosci 2008; 13: 1926-42. (Pubitemid 351599745)
8. Castiglia D, Castori M, Pisaneschi E, et al. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. Clin Genet 2009; 76: 392-7.
9. Cartegni L, Wang J, Zhu Z, et al. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31: 3568-71. (Pubitemid 37442199)
10. Smith PJ, Zhang C, Wang J, et al. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 2006; 15: 2490-508. (Pubitemid 44288702)
11. 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: e934-6.
12. Sakuntabhai A, Hammami-Hauasli 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: 737-48. (Pubitemid 30422673)
13. Cserhalmi-Friedman PB, McGrath JA, Mellerio JE, et al. Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Lab Invest 1998; 78: 1483-92. (Pubitemid 29022224)
14. Solis AS, Peng R, Crawford JB, et al. Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically. J Biol Chem 2008; 283: 23619-26.
15. 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. (Pubitemid 29278003)
16. Riedl E, Klausegger A, Bauer JW, et al. A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. Pediatr Dermatol 2009; 26: 115-17.
17. 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.