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Database Commons - The international dystrophic epidermolysis bullosa patient registry

The international dystrophic epidermolysis bullosa patient registry

Citations: 26

z-index 0.71

Short name The international dystrophic epidermolysis bullosa patient registry
Full name
Description The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
URL http://www.deb-central.org
Year founded 2011
Last update & version 2014-10-06    v1.0
Availability Free to all users
University/Institution hosted University of Groningen
Address Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
City Groningen
Province/State
Country/Region Netherlands
Contact name van den Akker PC
Contact email p.c.van.den.akker@umcg.nl
Data type(s)
Major organism(s)
Keyword(s)
  • COL7A1 mutation
  • dystrophic epidermolysis bullosa
Publication(s)
  • The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. [PMID: 21681854]

    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
    Human mutation 2011:32(10)
    26 Citations (Google Scholar as of 2016-02-28)

    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 (http://www.deb-central.org), 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 As of May 2011, this MOLGENIS-based registry contains detailed information on 508 published and 71 unpublished patients and their 388 unique COL7A1 mutations, and includes all combinations of mutations.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. © 2011 Wiley-Liss, Inc.

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Tags

Disease
Homo sapiens
COL7A1 mutation dystrophic epidermolysis bullosa

Record metadata

  • Created on: 2015-06-30
  • Last updated: 2015-06-30
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