Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa

Archives of Dermatological Research

Volumn 292, Issue 10, 2000, Pages 477-481

  Murata, T ^a   Masunaga, T ^a   Shimizu, H ^b   Takizawa, Y ^a   Ishiko, A ^a   Hatta, N ^c   Nishikawa, T ^a  

^a KEIO UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

^c KANAZAWA UNIVERSITY   (Japan)

Author keywords

Anchoring fibril; Basement membrane; Pruriginosa; Type VII collagen

Indexed keywords

AMINO ACID; COLLAGEN TYPE 7; GLYCINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENE MUTATION; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; CHILD; CODON; COLLAGEN; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GLYCINE; HUMANS; MUTATION; PEDIGREE; PHENOTYPE;

EID: 0034496139     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004030000162     Document Type: Article

References (15)

1. Hereditary skin diseases of anchoring fibrils
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3. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
4. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
5. Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering
6. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
7. Epidermolysis bullosa pruriginosa: Dystrophic epidermolysis bullosa with distinctive clinicopathological features
8. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa
9. Allelic heterogeneity of dominant and recessive COL7AI mutations underlying epidermolysis bullosa pruriginosa
10. Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity
11. 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
12. Particular mutations in exon 85 of type VII collagen gene (COL7A1) induce severe itch: Specific glycine substitutions for dominant forms of epidermolysis bullosa pruriginosa
13. Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: Positional effects of premature termination codon mutations on clinical severity
14. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin 5) genes
15. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis