Targeted gene under study:
KDM2B (* 609078)
Abstract
We have recently delineated a novel neurodevelopmental syndrome caused by heterozygous KDM2B variants. Affected individuals present with developmental delay and/or intellectual disability, autism, ADD/ ADHD, congenital organ anomalies mainly of the heart, eyes, and urogenital system, and subtle facial dysmorphism (PMID 36322151). Genotype-phenotype analysis suggests that missense variants, clustering in the CxxC domain cause a more severe phenotype compared to loss-of function variants and other missense variants. We are looking for clinical and genetic data to further strengthen our genotype-phenotype analysis. We also welcome DNA samples to refine the episignature. We have established a functional DNA binding assay to characterize variants and induced pluripotent stem cells from patient fibroblasts.
Coordinating clinician
Dr. R. Oegema – KDM2B@umcutrecht.nl
Institution
Department of Genetics, UMC Utrecht, the Netherlands
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes, optional
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes