Closed
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
Contact:
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
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