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

C T Gordon; A Tessier; Z Demir; A Goldenberg; M Oufadem; N Voisin; V Pingault; T Bienvenu; S Lyonnet; L de Pontual; J Amiel

doi:10.1111/cge.13046

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

Clin Genet. 2018 Feb;93(2):356-359. doi: 10.1111/cge.13046. Epub 2017 Sep 8.

Authors

C T Gordon^{1

2}, A Tessier^{1

2}, Z Demir³, A Goldenberg⁴, M Oufadem^{1

2}, N Voisin^{1

2}, V Pingault^{1

2

3}, T Bienvenu⁵, S Lyonnet^{1

2

3}, L de Pontual^{1

6}, J Amiel^{1

2

3}

Affiliations

¹ Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
² Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
³ Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
⁴ Service de Génétique, CHU de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
⁵ Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, Paris, France.
⁶ Service de pédiatrie, Hôpital Jean Verdier, Bondy, France.

PMID: 28456137
DOI: 10.1111/cge.13046

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.

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

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Brain Diseases / genetics*
Brain Diseases / physiopathology
Child, Preschool
Ear / abnormalities*
Ear / physiopathology
Ear Diseases / genetics*
Ear Diseases / physiopathology
Genetic Association Studies
Genetic Predisposition to Disease*
Humans
Infant
Loss of Function Mutation / genetics
MEF2 Transcription Factors / genetics
Male
Pedigree
Phenotype

Substances

MEF2 Transcription Factors
MEF2C protein, human

Supplementary concepts

Auriculo-condylar syndrome