Confirmation of an ARID2 defect in SWI/SNF ‐related intellectual disability

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.”

Source: American Journal of Medical Genetics Part A - September 8, 2017 Category: Genetics & Stem Cells Authors: Ruben Van Paemel, Pauline De Bruyne, Saskia van der Straaten, Marleen D'hondt, Urlien Fr änkel, Annelies Dheedene, Björn Menten, Bert Callewaert Tags: CLINICAL REPORT Source Type: research