Human phenotype caused by biallelic KDM4B frameshift variant.

Abstract excerpt

KDM4B (MIM*609765, NM_015015.3, formerly JMJD2B) encodes a histone demethylase and regulates gene expression via demethylation, mainly of H3K9 tri-methylation. Heterozygous KDM4B loss-of-function variants cause autosomal dominant intellectual developmental disorder 65 (MIM#619320), which is characterized by global developmental delay, intellectual disability, language and gross motor delays, structural brain...

Topics

• Humans
• Male
• Female
• Animals
• Mice
• Frameshift Mutation
• Exons
• Phenotype
• Intellectual Disability
• Language Development Disorders
• Jumonji Domain-Containing Histone Demethylases