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Review
. 2019 Mar;179(3):442-447.
doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31.

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

John Timothy Wright  1 , Mary Fete  2 , Holm Schneider  3 , Madelaine Zinser  2 , Maranke I Koster  4   5 , Angus J Clarke  6 , Smail Hadj-Rabia  7 , Gianluca Tadini  8 , Nina Pagnan  9 , Atila F Visinoni  10 , Birgitta Bergendal  11 , Becky Abbott  12 , Timothy Fete  4   13 , Clark Stanford  4   14 , Clayton Butcher  15 , Rena N D'Souza  16 , Virginia P Sybert  17 , Maria I Morasso  18
Affiliations
Review

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

John Timothy Wright et al. Am J Med Genet A. 2019 Mar.

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).

Keywords: classification; dysplasia; ectodermal; genetic; molecular; signaling pathway.

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Figures

Figure 1:
Figure 1:
The EDA molecular pathways and the interrelationships between different genes and known associated EDs are presented. Causative genes appear in orange ovals and abbreviations for the ED conditions are shown in green boxes.
Figure 2:
Figure 2:
The WNT molecular pathways and the interrelationships between different genes are presented. Causative genes appear in purple ovals and abbreviations for the ED conditions are shown in green boxes.
Figure 3:
Figure 3:
TP63 molecular pathways and the interrelationships between different genes are presented. Causative genes appear in blue ovals and abbreviations for the ED conditions are shown in green boxes.
See this image and copyright information in PMC

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