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01-10-2015 | Original Article

Mutations in ARID2 are associated with intellectual disabilities

Authors: 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

Published in: Neurogenetics | Issue 4/2015

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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Title: Mutations in ARID2 are associated with intellectual disabilities
Authors: 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
Publication date: 01-10-2015
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 4/2015
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-015-0454-0

ACC 2024 Congress

Springer Medicine

Mutations in ARID2 are associated with intellectual disabilities

Abstract

ACC 2024 Congress

Springer Medicine

Abstract

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