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Mutations in ARID2 are associated with intellectual disabilities

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Abstract

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.

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Acknowledgements

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.

Conflicts of interest

Megan Cho, Kyle Retterer, Leandra Folk, Patrik Vitazka, and Jane Juusola are employees of GeneDx. Wendy Chung is a consultant to BioReference Laboratories. The other authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA

    Linshan Shang, Alejandro Iglesias & Wendy K. Chung

  2. GeneDx, Gaithersburg, MD, USA

    Megan T. Cho, Kyle Retterer, Leandra Folk, Patrik Vitazka & Jane Juusola

  3. Department of Pediatrics, Division of Genetics and Metabolism, University of Virginia, Charlottesville, VA, USA

    Jennifer Humberson

  4. Department of Pediatrics, Division of Genetics, San Antonio Military Medical Center, San Antonio, TX, USA

    Luis Rohena

  5. Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, USA

    Alpa Sidhu & Sheila Saliganan

  6. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA

    Anne H. O’Donnell-Luria

  7. Broad Institute of MIT and Harvard, Cambridge, MA, USA

    Anne H. O’Donnell-Luria

  8. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA

    Anne H. O’Donnell-Luria

  9. Department of System Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY, 10032, USA

    Yufeng Shen

  10. Department of Medicine, Columbia University Medical Center, New York, NY, USA

    Wendy K. Chung

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  1. Linshan Shang
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Correspondence to Wendy K. Chung.

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Shang, L., Cho, M.T., Retterer, K. et al. Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics 16, 307–314 (2015). https://doi.org/10.1007/s10048-015-0454-0

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