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

• Published in: Clinical genetics Vol. 93; no. 2; pp. 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: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.02.2018
• 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; MEF2C; craniofacial development; mandibulofacial dysostosis; auriculocondylar syndrome; endothelin pathway; intellectual deficiency; question mark ear
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/cge.13046

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.