A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.

Abstract excerpt

KDM3B encodes a histone lysine demethylase and is involved in transcriptional regulation. Patients with heterozygous pathogenic variants in KDM3B are diagnosed with Diets-Jongmans syndrome (DIJOS), a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, distinctive facial features, and short stature. Here, we report the identification of a novel frameshift variant in...

Topics

• Humans
• Male
• Jumonji Domain-Containing Histone Demethylases
• Facial Asymmetry
• Infant
• Phenotype
• Intellectual Disability
• Developmental Disabilities
• Frameshift Mutation
• Dwarfism