Targeted gene(s)/phenotype under study

Gene:  KDM4B (OMIM 609765)


KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/demethylation-modified histones, which displays an important epigenetic mechanism on gene expression in animal development and cancer. Its role on human development is poorly defined.

In a recent publication (Duncan et al., 2020), we described nine individuals with pathogenic or likely pathogenic variants in KDM4B, who presented with dysmorphic features and global developmental delay. Four had neuroanatomical defects compatible with those identified in a mouse model.

We aim to better delineate the phenotypic spectrum of KDM4B-related disorder. We are looking for patients carrying predicted damaging heterozygous variants, either de novo or inherited from an affected parent. A collaborative work with the team of Prof. Bekim Sadikovic (University of Western Ontario) is in place to identify a blood-derived DNA methylation signature.

Coordinating clinicians/researchers 

  • Mrs Caroline Racine (resident)
  • Dr Antonio Vitobello  



Genetics of Developmental Disorders
Dijon Bourgogne University Hospital
Inserm UMR 1231 GAD team, Bâtiment B3
15 boulevard Maréchal De Lattre de Tassigny
21070 DIJON Cedex, France

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples : Yes
  • Resampling of patients : Yes
  • Linked to a translational/basic research project? No