Diets-Jongmans syndrome

Definition:

Diets-Jongmans syndrome (DIJOS) is an inherited neurodevelopmental disorder characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes a histone demethylase. KDM3B is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation.

References:

[1]. Illja J Diets, et al. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. Am J Hum Genet. 2019 Apr 4;104(4):758-766. [Content Brief]

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