Targeted gene under study:

MBD6 (OMIM * 619458)


We hypothesize that germline variants in MBD6 gene may lead to a neurodevelopmental phenotype similar to the clinical syndrome caused by germline BAP1 gene variants. We are collecting clinical data from patients with a neurodevelopmental phenotype and suspected deleterious changes in MBD6 gene. We are planning to include functional studies in order to determine the molecular effect of the MBD6 gene variants in the cohort. So far (02.01.2024) we have gathered clinical data from eleven patients with potentially deleterious heterozygous, mostly de novo changes in MBD6 gene and a neurodevelopmental phenotype.

Coordinating clinicians

Elis Tiivoja –,

Katrin Õuna –


Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: If possible, we collect DNA and fibroblast cell cultures 

3- Linked to a translational/basic research project: No