Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI (2019)
Publication Type: Journal article
Publication year: 2019
Journal
Book Volume: 179
Pages Range: 442-447
Journal Issue: 3
DOI: 10.1002/ajmg.a.61045
Abstract
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e.g., non-syndromic hypodontia or missing teeth associated with pathogenic variants of EDA "ectodysplasin"). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT "wingless-type," TP63 "tumor protein p63") or the components of complex molecular structures (e.g., connexins, keratins, cadherins).
Authors with CRIS profile
Involved external institutions
University of North Carolina at Chapel Hill
United States (USA) (US)
National Foundation for Ectodermal Dysplasia (NFED)
United States (USA) (US)
Cardiff University
United Kingdom (GB)
University of Paris 5 - René Descartes / Université Paris V René Descartes
France (FR)
Università degli studi di Milano
Italy (IT)
Universidade Federal do Paraná (UFPR)
Brazil (BR)
Universidade Positivo (UP)
Brazil (BR)
University of Jönköping
Sweden (SE)
University of Missouri-Columbia (Mizzou)
United States (USA) (US)
University of Utah
United States (USA) (US)
University of Washington
United States (USA) (US)
US National Institutes of Health (NIH)
United States (USA) (US)
United States (USA) (US)
National Foundation for Ectodermal Dysplasia (NFED)
United States (USA) (US)
Cardiff University
United Kingdom (GB)
University of Paris 5 - René Descartes / Université Paris V René Descartes
France (FR)
Università degli studi di Milano
Italy (IT)
Universidade Federal do Paraná (UFPR)
Brazil (BR)
Universidade Positivo (UP)
Brazil (BR)
University of Jönköping
Sweden (SE)
University of Missouri-Columbia (Mizzou)
United States (USA) (US)
University of Utah
United States (USA) (US)
University of Washington
United States (USA) (US)
US National Institutes of Health (NIH)
United States (USA) (US)
How to cite
APA:
Wright, J.T., Fete, M., Schneider, H., Zinser, M., Koster, M.I., Clarke, A.J.,... Morasso, M.I. (2019). Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. American Journal of Medical Genetics Part A, 179(3), 442-447. https://dx.doi.org/10.1002/ajmg.a.61045
MLA:
Wright, John Timothy, et al. "Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway." American Journal of Medical Genetics Part A 179.3 (2019): 442-447.
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