Targeted gene/syndrome under study

MED23 (OMIM *605042, # 614249)


Biallelic MED23 variants have been described more than a decade ago to be responsible for a non-syndromic form of developmental delay and intellectual disability. Since 2011, only a handful of patients (9) have been identified and published in the literature, offering very little information on the full scope of clinical and radiological anomalies that MED23 patients may present.
In order to face this issue, we have gathered an international cohort of 14 individuals carrying biallelic MED23 variants. This work will offer new, more precise data on clinical phenotype and radiological anomalies associated with MED23. Furthermore, because of its proven role in epigenetic mechanisms, we are also working on an episignature and have been able to generate preliminary data that confirms a methylation profile.
We are interested in gathering additional patients to refine even more this work before submitting it to publication.

Coordinating clinicians/researchers

Dr Quentin THOMAS, MD –


Genetics Center, Dijon-Bourgogne University Hospital, Dijon, France

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: N
  • Resampling of patients: Yes
  • Linked to a translational/basic research project: Yes