The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1‐endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this pathway. We report heterozygous MEF2C loss‐of‐function...

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Bibliographic Details
Published in:Clinical genetics 2018-02, Vol.93 (2), p.356-359
Main Authors: Gordon, C.T., Tessier, A., Demir, Z., Goldenberg, A., Oufadem, M., Voisin, N., Pingault, V., Bienvenu, T., Lyonnet, S., de Pontual, L., Amiel, J.
Format: Article
Language:English
Subjects:
Animal models
auriculocondylar syndrome
Brain Diseases - genetics
Brain Diseases - physiopathology
Child, Preschool
craniofacial development
Ear
Ear - abnormalities
Ear - physiopathology
Ear Diseases - genetics
Ear Diseases - physiopathology
Encephalopathy
Endothelin 1
endothelin pathway
Endothelins
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Infant
intellectual deficiency
Loss of Function Mutation - genetics
Male
mandibulofacial dysostosis
MEF2 Transcription Factors - genetics
MEF2C
Pedigree
Phenotype
question mark ear
Signal transduction
Transcription factors
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Summary:Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1‐endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this pathway. We report heterozygous MEF2C loss‐of‐function as a possible cause of question mark ear associated with intellectual deficiency.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13046