Related Experiment Video
Updated: Feb 23, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
Ruben Van Paemel1, Pauline De Bruyne2, Saskia van der Straaten3
1Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Abstract:
We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes."
Related Concept Videos
Pleiotropy
Sex-linked Disorders
Intellectual Disability
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

