Targeted gene(s)/phenotype under study

Gene: KMT2B   


KMT2B encodes a lysine-specific histone methyltransferase which catalyzes methylation to the fourth lysine residue of histone H3 (H3K4). So far, de novo loss-of-function and damaging missense variants in KMT2B have mainly been found in individuals with early-onset dystonia (#OMIM 617284), although about 20% of patient present not with a dystonic phenotype but rather with a neurodevelopmental disorder (NDD)  (Faundes et al., 2018, Cif et al., 2020). It is currently unclear whether dystonia develops later among the NDD individuals.

Our study aims to delineate the phenotypic and genetic spectrum associated with NDD patients without dystonia and, in collaboration with, the groups of Tjitske Kleefstra and Rosanna Weksberg from Radboudumc, the Netherlands and the SickKids hospital, Canada, respectively, investigate the molecular bases of KMT2B-associated disorders, by performing DNA methylation analyses in samples extracted from peripheral blood of the dystonic and non-dystonic individuals.

Coordinating clinicians /researchers 

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



Centre Hospitalier Universitaire Dijon Bourgogne
Inserm 1231 GAD team
Dijon, France

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples : If necessary
  • Resampling of patients : If necessary
  • Linked to a translational/basic research project? If necessary