4.5 Article

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

Journal

CLINICAL GENETICS
Volume 93, Issue 2, Pages 356-359

Publisher

WILEY
DOI: 10.1111/cge.13046

Keywords

auriculocondylar syndrome; craniofacial development; endothelin pathway; intellectual deficiency; mandibulofacial dysostosis; MEF2C; question mark ear

Funding

  1. Universite Sorbonne Paris-Cite Pole de recherche et d'enseignement superieur grant [SPC/JFG/2013-031]
  2. ANR CranioRespiro
  3. E-Rare CRANIRARE grant

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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.

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