Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa

Jemima E. Mellerio, Gabrielle H.S. Ashton, Rafik Mohammedi, Calum C. Lyon, Brian Kirby, Karen E. Harman, Julio C. Salas-Alanis, David J. Atherton, Phillip V. Harrison, W. Andrew D. Griffiths, Martin M. Black, Robin A.J. Eady, John A. McGrath

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The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients with a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by pruritus, excoriated prurigo nodules, and skin fragility. Mutation analysis using polymerase chain reaction amplification of genomic DNA, heteroduplex analysis and direct nucleotide sequencing demonstrated pathogenetic COL7A1 mutations in each case. Four patients had a glycine substitution mutation on one COL7A1 allele (G1791E, G2242R, G2369S, and G2713R), a fifth was a compound heterozygote for a splice site mutation (5532 + 1G-to-A) and a single base pair deletion (7786delG), and a sixth patient was heterozygous for an out-of-frame deletion mutation (6863del16). This study shows that the molecular pathology in patients with the distinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and suggests that other factors, in addition to the inherent COL7A1 mutation(s), may be responsible for an epidermolysis bullosa pruriginosa phenotype.
Original languageEnglish
Pages (from-to)984-987
Number of pages4
JournalJournal of Investigative Dermatology
Publication statusPublished - 1 Jan 1999
Externally publishedYes


All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

Cite this

Mellerio, J. E., Ashton, G. H. S., Mohammedi, R., Lyon, C. C., Kirby, B., Harman, K. E., Salas-Alanis, J. C., Atherton, D. J., Harrison, P. V., Griffiths, W. A. D., Black, M. M., Eady, R. A. J., & McGrath, J. A. (1999). Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. Journal of Investigative Dermatology, 984-987.