Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
classification
dysplasia
ectodermal
genetic
molecular
signaling pathway
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
29
10
2018
revised:
19
12
2018
accepted:
21
12
2018
pubmed:
1
2
2019
medline:
17
4
2020
entrez:
1
2
2019
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 30703280
doi: 10.1002/ajmg.a.61045
pmc: PMC6421567
mid: NIHMS1013279
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
442-447Subventions
Organisme : NIDCR NIH HHS
ID : R01 DE016079
Pays : United States
Organisme : NIDCR NIH HHS
ID : R13 DE018845
Pays : United States
Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
Hum Mutat. 2011 Jan;32(1):70-2
pubmed: 20979233
Hum Hered. 1977;27(4):251-6
pubmed: 892804
Am J Med Genet A. 2015 Dec;167A(12):2869-92
pubmed: 26394607
Biochem Biophys Res Commun. 2010 Apr 23;395(1):131-5
pubmed: 20361935
Nat Genet. 1996 Aug;13(4):409-16
pubmed: 8696334
Exp Cell Res. 2014 Feb 1;321(1):11-6
pubmed: 23939346
Am J Med Genet A. 2014 Oct;164A(10):2472-7
pubmed: 24715647
Nature. 2001 Dec 20-27;414(6866):913-6
pubmed: 11780064
J Med Genet. 2012 May;49(5):327-31
pubmed: 22581971
Dermatology. 2013;226(2):111-4
pubmed: 23635470
Birth Defects Orig Artic Ser. 1988;24(2):3-14
pubmed: 3179433
Br J Dermatol. 1994 Jul;131(1):1-14
pubmed: 8043399
J Med Genet. 2012 Aug;49(8):499-501
pubmed: 22889853
Am J Med Genet A. 2014 Oct;164A(10):2482-9
pubmed: 24700551
Gene. 2012 Apr 15;497(2):292-7
pubmed: 22342398
Am J Med Genet A. 2009 Sep;149A(9):1958-69
pubmed: 19681152
Eur J Med Genet. 2013 May;56(5):236-42
pubmed: 23416623
J Invest Dermatol. 2010 Oct;130(10):2352-8
pubmed: 20445549
Am J Med Genet A. 2009 Sep;149A(9):2062-7
pubmed: 19681147
J Am Acad Dermatol. 2014 Jun;70(6):1103-26
pubmed: 24690439
J Am Acad Dermatol. 2010 Oct;63(4):607-41
pubmed: 20643494
J Med Genet. 2001 Sep;38(9):579-85
pubmed: 11546825
Hum Mutat. 2006 Mar;27(3):255-9
pubmed: 16435307
Am J Med Genet A. 2014 Oct;164A(10):2415-23
pubmed: 25098893
J Dent Res. 2013 Jun;92(6):500-6
pubmed: 23625373
N Engl J Med. 2018 Apr 26;378(17):1604-1610
pubmed: 29694819
Hum Hered. 1971;21(4):309-12
pubmed: 5139249
Exp Cell Res. 2014 Jul 15;325(2):96-103
pubmed: 24530577
Clin Genet. 2019 Jan;95(1):132-139
pubmed: 30101460