KDM2B variants
A spectrum of pathogenic variants has been reported, including larger deletions of the chromosome 12q24.31 region, as well frameshift, nonsense, and missense variants. One in frame deletion of a single amino acid has been identified as well. A clustering of pathogenic variants (missenses and an in frame deletion) in the DNA-binding CxxC domain was observed.
Both de novo and inherited variants have been reported.
Diagnosis/testing
Mutations in KDM2B can be identified using molecular genetic testing; by exome/genome sequencing, or direct sequencing. Large deletions can be identified by chromosomal microarrays.
A KDM2B-related genome-wide methylation signature – episignature- has been developed (PMID 36322151).
KDM2B