title: The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
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 As of May 2011, this MOLGENIS-based registry contains detailed information on 508 published and 71 unpublished patients and their 388 unique COL7A1 mutations, and includes all combinations of mutations.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.
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. p.c.van.den.akker@umcg.nl
authors.forename: Peter C
authors.initials: PC
authors.lastname: van den Akker
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
authors.forename: Trebor
authors.initials: T
authors.lastname: Rengaw
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zambruno
authors.forename: Daniele
authors.initials: D
authors.lastname: Castiglia
authors.forename: Jemima E
authors.initials: JE
authors.lastname: Mellerio
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.forename: Anthonie J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: Robert M W
authors.initials: RM
authors.lastname: Hofstra
authors.forename: Morris A
authors.initials: MA
authors.lastname: Swertz
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D030561:Databases, Nucleic Acid; D016108:Epidermolysis Bullosa Dystrophica / Q000453:epidemiology / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D020407:Internet; D009154:Mutation; D010641:Phenotype; D012042:Registries / Q000592:standards / Q000706:statistics & numerical data; D057386:Search Engine
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII