Journal article
Mutations in ARID2 are associated with intellectual disabilities
Neurogenetics, Vol.16(4), pp.307-314
10/2015
DOI: 10.1007/s10048-015-0454-0
PMID: 26238514
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.
Details
- Title: Subtitle
- Mutations in ARID2 are associated with intellectual disabilities
- Creators
- Linshan Shang - Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USAMegan T Cho - GeneDx, Gaithersburg, MD, USAKyle Retterer - GeneDx, Gaithersburg, MD, USALeandra Folk - GeneDx, Gaithersburg, MD, USAJennifer Humberson - Department of Pediatrics, Division of Genetics and Metabolism, University of Virginia, Charlottesville, VA, USALuis Rohena - Department of Pediatrics, Division of Genetics, San Antonio Military Medical Center, San Antonio, TX, USAAlpa Sidhu - Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, USASheila Saliganan - Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, USAAlejandro Iglesias - Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USAPatrik Vitazka - GeneDx, Gaithersburg, MD, USAJane Juusola - GeneDx, Gaithersburg, MD, USAAnne H O'Donnell-Luria - Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USAYufeng Shen - Department of System Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY, 10032, USAWendy K Chung - Department of Medicine, Columbia University Medical Center, New York, NY, USA. wkc15@columbia.edu
- Resource Type
- Journal article
- Publication Details
- Neurogenetics, Vol.16(4), pp.307-314
- DOI
- 10.1007/s10048-015-0454-0
- PMID
- 26238514
- ISSN
- 1364-6745
- eISSN
- 1364-6753
- Language
- English
- Date published
- 10/2015
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093339202771
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