Mutations in ARID2 are associated with intellectual disabilities

Linshan Shang, Megan T. Cho, Kyle Retterer, Leandra Folk, Jennifer Humberson, Luis Rohena, Alpa Sidhu, Sheila Saliganan, Alejandro Iglesias, Patrik Vitazka, Jane Juusola, Anne H. O’Donnell-Luria, Yufeng Shen, Wendy K. Chung

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


The etiology of intellectual disabilities (ID) remains unknown for the majority of patients. Due to reduced reproductive fitness in many individuals with ID, de novo mutations account for a significant portion of severe ID. The ATP-dependent SWI/SNF chromatin modifier has been linked with neurodevelopmental disorders including ID and autism. ARID2 is an intrinsic component of polybromo-associated BAF (PBAF), the SWI/SNF subcomplex. In this study, we used clinical whole exome sequencing (WES) in proband-parent-trios to identify the etiology of ID. We identified four independent, novel, loss of function variants in ARID2 gene in four patients, three of which were confirmed to be de novo. The patients all have ID and share other clinical characteristics including attention deficit hyperactivity disorder, short stature, dysmorphic facial features, and Wormian bones. All four novel variants are predicted to lead to a premature termination with the loss of the two conservative zinc finger motifs. This is the first report of mutations in ARID2 associated with developmental delay and ID.

Original languageEnglish (US)
Pages (from-to)307-314
Number of pages8
Issue number4
StatePublished - Oct 26 2015
Externally publishedYes

Bibliographical note

Funding Information:
We thank the families for their generous contributions. We thank the data review support from ExAC consortium. This work was supported in part by a grant from the Simons Foundation.

Publisher Copyright:
© 2015, Springer-Verlag Berlin Heidelberg.


  • ARID2
  • De novo mutations
  • Intellectual disabilities
  • SWI/SNF chromatin modifier
  • Whole exome sequencing


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