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

Autor: Angus John Clarke, Maranke I. Koster, Smail Hadj-Rabia, Clayton Butcher, Mary Fete, Gianluca Tadini, Clark M. Stanford, Nina Amália Brancia Pagnan, Madelaine Zinser, Maria I. Morasso, Átila F. Visinoni, Becky Abbott, John Timothy Wright, Rena N. D'Souza, Holm Schneider, Birgitta Bergendal, Virginia P. Sybert, Timothy J. Fete
Jazyk: angličtina
Rok vydání: 2019
Předmět:
ISSN: 1552-4825
Popis: 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 that would integrate both clinical and molecular information. We propose the following, a working definition of the ectodermal dysplasias building on previous classification systems and incorporating current approaches to diagnosis: ectodermal dysplasias 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 ectodermal dysplasias 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).
Databáze: OpenAIRE
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