As this disorder was only recently described, the full mutational and phenotypical spectrum is unknown.
We are actively collecting patient data to expand the KDM2B cohort.
The overall aims of our research are:
• to identify additional patients with mutations in KDM2B
• to characterize the clinical spectrum
• to asses genotype-phenotype correlations
• to further optimize the epigsignature and its subsignatures
• to develop functional assays for characterization of variants, currently we have developed a DNA binding assay to assess variants in or in proximity to the CxxC domain
• to develop an iPSC-based neuronal cell model and identify the role of KDM2B in neuronal development
• to develop a facial-recognition tool
For the clinical studies we would like to receive (1) clinical and genetic information and/or (2) photographs of any individual with a variant in KDM2B (class 3, 4, or 5).
We also welcome DNA samples and fibroblast-derived cell lines of patients.
Clinicians/ researchers can contact the study coordinator Renske Oegema directly through KDM2B@umcutrecht.nl. Clinical data can also be entered directly into the HDG database.
Instructions for the clinician involved:
Please request written consent for the use and storage of medical information with or without photographs, and if applicable use of DNA or cell lines.