Article
KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.
American journal of medical genetics. Part A - 1 May 2026
Gomes Adriana, Martín-Rodríguez Álvaro, Del Campo Miguel, Bird Lynne M
Abstract excerpt
The KDM2B-related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder. Variants in KDM2B that primarily affect the CxxC DNA-binding domain are strongly linked to a specific epigenetic...
Topics
- Humans
- Female
- Child, Preschool
- Male
- Phenotype
- Jumonji Domain-Containing Histone Demethylases
- Neurodevelopmental Disorders
- F-Box Proteins
- Mutation
- DNA Methylation
- Epigenesis, Genetic