The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function. Issue 2 (8th September 2017)

• Record Type: Journal Article
• 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.
• Is Part Of: Clinical genetics. Volume 93:Issue 2(2018)
• Page Start: 356
• Page End: 359
• Publication Date: 2017-09-08
• Subjects: auriculocondylar syndrome -- craniofacial development -- endothelin pathway -- intellectual deficiency -- mandibulofacial dysostosis -- MEF2C -- question mark ear; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13046
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : 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. Abstract :