This website provides information on patients with mutations in the KDM2B gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the KDM2B gene is a multisystem disorder characterized by developmental delay, behavioral difficulties, for example ADHD or autism, and congenital abnormalities of the heart, kidneys and eyes. Not all individuals with a mutation in the KDM2B gene have all of these features. More patient data is needed to examine the phenotype of patients with a KDM2B mutation in more detail and to identify the consequences of these mutations with improved precision.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KDM2B gene.
We invite clinicians who have identified a patient with a KDM2B variant (class 3, 4, or 5) to contact us KDM2B@umcutrecht.nl and submit their data to the database.
Renske Oegema, MD, PhD, Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands, r.oegema@umcutrecht.nl
Richard van jaarsveld, PhD, Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands, R.H.vanJaarsveld@umcutrecht.nl