A novel glycine mutation in the Col7a1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity

Pediatric Dermatology

Volumn 26, Issue 1, 2009, Pages 115-117

  Riedl, Elisabeth ^a   Klausegger, Alfred ^b   Bauer, Johann W ^b   Foedinger, Dagmar ^a   Kittler, Harald ^a  

^a Universitatsklinik fur Dermatologie   (Austria)

^b PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ASPARTIC ACID; GENOMIC DNA; GLYCINE; GUANINE; PSORALEN; STEROID;

ADOLESCENT; ARTICLE; BLISTER; CASE REPORT; COL7A1 GENE; DNA EXTRACTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILY; FEMALE; GENE; GENE MUTATION; HUMAN; MUTATIONAL ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRURIGO; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SKIN DEFECT; SKIN DISEASE; TRANSMISSION ELECTRON MICROSCOPY; ULTRAVIOLET A RADIATION;

ADOLESCENT; BIOPSY; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; GLYCINE; HUMANS; PHENOTYPE; SKIN;

EID: 60449101963     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2008.00846.x     Document Type: Article

References (5)

1. 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 : 984 987.
2. Christiano AM, Hoffman GG, Zhang X 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.
3. 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.
4. Tamai K, Hashimoto I, Murai T et al. Particular mutations in exon 85 of type VII collagen gene (COL7A1) induce severe itch. Specific glycin substitutions for dominant forms of epidermolysis bullosa pruriginosa. J Invest Dermatol 1998 110 : 509.
5. Mellerio JE, Salas-Alanis JC, Talamantes ML et al. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. Br J Dermatol 1998 139 : 730 737.