Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
Animals
Craniofacial Abnormalities
/ genetics
Ear
/ abnormalities
Ear Diseases
/ genetics
GTP-Binding Protein alpha Subunits, Gi-Go
/ genetics
Gene Expression Regulation, Developmental
/ genetics
Genetic Predisposition to Disease
Humans
Loss of Function Mutation
/ genetics
Mandibulofacial Dysostosis
/ genetics
Mice
Mice, Knockout
Morphogenesis
/ genetics
Neural Crest
/ growth & development
Phenotype
Receptor, Endothelin A
/ genetics
Signal Transduction
/ genetics
Auriculocondylar syndrome
BRET
cardiovascular
micrognathia
neural crest cell
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:
05 2020
05 2020
Historique:
received:
27
06
2019
revised:
06
02
2020
accepted:
06
02
2020
pubmed:
7
3
2020
medline:
13
1
2021
entrez:
6
3
2020
Statut:
ppublish
Résumé
Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice. One explanation may be that partial EDNRA signaling remains in MFDA and ARCND, as mice with reduced, but not absent, EDNRA signaling also lack a cardiovascular phenotype. Here we report an individual with craniofacial and cardiovascular malformations mimicking the Ednra
Identifiants
pubmed: 32133772
doi: 10.1002/ajmg.a.61531
pmc: PMC7202054
mid: NIHMS1573711
doi:
Substances chimiques
EDNRA protein, human
0
Receptor, Endothelin A
0
GNAI3 protein, human
EC 3.6.5.1
GTP-Binding Protein alpha Subunits, Gi-Go
EC 3.6.5.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1104-1116Subventions
Organisme : NIGMS NIH HHS
ID : F30 GM131672
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE023050
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM130142
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals, Inc.
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