The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Peter C. Van den Akker, Marcel F. Jonkman, Trebor Rengaw, Leena Bruckner-Tuderman, Cristina Has, Johann W. Bauer, Alfred Klausegger, Giovanna Zambruno, Daniele Castiglia, Jemima E. Mellerio, John A. Mcgrath, Anthonie J. van Essen, Robert M W Hofstra, Morris A. Swertz

Research output: Contribution to journalArticle

Abstract

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype-phenotype correlation rules have emerged, many exceptions to these rules exist, compromising disease diagnosing and genetic counseling. We therefore constructed the International DEB Patient Registry, aimed at worldwide collection and sharing of phenotypic and genotypic information on DEB. As of May 2011, this MOLGENIS-based registry contains detailed information on 508 published and 71 unpublished patients and their 388 unique COL7A1 mutations, and includes all combinations of mutations. The current registry RDEB versus DDEB ratio of 4:1, if compared to prevalence figures, suggests underreporting of DDEB in the literature. Thirty-eight percent of mutations stored introduce a premature termination codon (PTC) and 43% an amino acid change. Submission wizards allow users to quickly and easily share novel information. This registry will be of great help in disease diagnosing and genetic counseling and will lead to novel insights, especially in the rare phenotypes of which there is often lack of understanding. Altogether, this registry will greatly benefit the DEB patients.

Original languageEnglish
Pages (from-to)1100-1107
Number of pages8
JournalHuman Mutation
Volume32
Issue number10
DOIs
Publication statusPublished - Oct 2011

Keywords

  • COL7A1
  • DEB
  • Genotype-phenotype correlation MOLGENIS
  • Locus-specific database

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Van den Akker, P. C., Jonkman, M. F., Rengaw, T., Bruckner-Tuderman, L., Has, C., Bauer, J. W., Klausegger, A., Zambruno, G., Castiglia, D., Mellerio, J. E., Mcgrath, J. A., van Essen, A. J., Hofstra, R. M. W., & Swertz, M. A. (2011). The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Human Mutation, 32(10), 1100-1107. https://doi.org/10.1002/humu.21551