Development of a DNA methylation episignature for variants in KDM3

Targeted gene(s)/phenotype under study :

  • Gene: KDM3B (Diets-Jongmans syndrome, OMIM #618846)

Abstract :

Diets-Jongmans syndrome (OMIM 618846) is associated with heterozygous variations in the KDM3B gene. We would like to develop a DNA methylation episignature in collaboration with Bekim Sadikovic’s team to help the classification of variants of uncertain significance in this gene. We would like to recruit patients with a pathogenic variation in KDM3B. We need 3 µg of DNA per individual.

Coordinating clinicians /researchers: 

  • Dr Anne-Sophie Denommé-Pichon
  • Dr Antonio Vitobello  

Institution :

Genetics of Developmental Disorders

Dijon Bourgogne University Hospital

Inserm UMR 1231 GAD team, Bâtiment B3

15 boulevard Maréchal Delattre de Tassigny

21070 Dijon Cedex, France

Contact : 

Specific requirements beyond clinical data and genotype data sharing:

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