Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

Beitrag in einer Fachzeitschrift


Details zur Publikation

Autor(en): 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
Zeitschrift: American Journal of Medical Genetics Part A
Jahr der Veröffentlichung: 2019
Band: 179
Heftnummer: 3
Seitenbereich: 442-447
ISSN: 1552-4825


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).


FAU-Autoren / FAU-Herausgeber

Schneider, Holm Prof. Dr.
Professur für Kinderheilkunde/Experimentelle Perinatalmedizin


Autor(en) der externen Einrichtung(en)
Cardiff University
National Foundation for Ectodermal Dysplasia (NFED)
Universidade Federal do Paraná (UFPR)
Universidade Positivo (UP)
Università degli studi di Milano
Universität Paris Descartes / Université Paris 5 René Descartes
University of Jönköping
University of Missouri-Columbia (Mizzou)
University of North Carolina at Chapel Hill
University of Utah
University of Washington
US National Institutes of Health (NIH)


Zitierweisen

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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Zuletzt aktualisiert 2019-12-03 um 00:08