Journal article
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
American journal of medical genetics. Part A, Vol.179(3), pp.442-447
03/2019
DOI: 10.1002/ajmg.a.61045
PMCID: PMC6421567
PMID: 30703280
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).
Details
- Title: Subtitle
- Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
- Creators
- John Timothy Wright - University of North Carolina at Chapel HillMary Fete - National Foundation for Ectodermal DysplasiasHolm Schneider - Universitätsklinikum ErlangenMadelaine Zinser - National Foundation for Ectodermal DysplasiasMaranke I Koster - University of Colorado Anschutz Medical CampusAngus J Clarke - Cardiff UniversitySmail Hadj-Rabia - Sorbonne Paris CitéGianluca Tadini - Fondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoNina Pagnan - Universidade Federal do ParanáAtila F Visinoni - Universidade PositivoBirgitta Bergendal - Swedish InstituteBecky Abbott - NFED for Treatment & Research, Fairview Heights, Illinois.Timothy Fete - University of Missouri Health SystemClark Stanford - University of Illinois ChicagoClayton Butcher - University of MissouriRena N D'Souza - University of UtahVirginia P Sybert - University of Washington Medical CenterMaria I Morasso - National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.179(3), pp.442-447
- DOI
- 10.1002/ajmg.a.61045
- PMID
- 30703280
- PMCID
- PMC6421567
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Grant note
- R01 DE016079 / NIDCR NIH HHS R13 DE018845 / NIDCR NIH HHS
- Language
- English
- Date published
- 03/2019
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Dentistry Administration; Prosthodontics; Orthopedics and Rehabilitation; Craniofacial Anomalies Research Center
- Record Identifier
- 9984367655102771
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