2015
DOI: 10.1007/s10048-015-0454-0
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Mutations in ARID2 are associated with intellectual disabilities

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-… Show more

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Cited by 60 publications
(46 citation statements)
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“…Utilizing the power of our large data set, we were able to identify novel candidate genes in which multiple patients with similar phenotypes had rare variants predicted to result in loss of function, many of which were de novo. Access to this large number of cases has proven extremely valu- [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] As a result of our experience, we believe that candidate genes should be reported from WES analysis and shared in databases, such as GeneMatcher, so that clinicians, researchers, and clinical laboratories can be connected to facilitate more rapid dissemination of information and validation of novel disease genes. Our series is larger than previously reported clinical diagnostic series and has the power to begin to address the yield of WES for a large number of clinical indications.…”
Section: Discussionmentioning
confidence: 99%
“…Utilizing the power of our large data set, we were able to identify novel candidate genes in which multiple patients with similar phenotypes had rare variants predicted to result in loss of function, many of which were de novo. Access to this large number of cases has proven extremely valu- [21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] As a result of our experience, we believe that candidate genes should be reported from WES analysis and shared in databases, such as GeneMatcher, so that clinicians, researchers, and clinical laboratories can be connected to facilitate more rapid dissemination of information and validation of novel disease genes. Our series is larger than previously reported clinical diagnostic series and has the power to begin to address the yield of WES for a large number of clinical indications.…”
Section: Discussionmentioning
confidence: 99%
“…Loss‐of‐function mutations of ARID2 cause an ID syndrome that was reported in 2015 (Shang et al., 2015). SWI/SNF chromatin modifier has been related to neurodevelopmental disorders, including ID and autism.…”
Section: Discussionmentioning
confidence: 99%
“…Whole-exome sequencing was performed as described previously [18]. Briefly, Genomic DNA extracted from whole blood was fragmented and exomes were captured using the Agilent SureSelect Human All Exon V4 (50 Mb) kit (Agilent Technologies, Santa Clara, CA).…”
Section: Methodsmentioning
confidence: 99%
“…All coding exons and surrounding intron/exon boundaries were analyzed. Whole exome sequence data for all sequenced family members was analyzed using GeneDx’s XomeAnalyzer (a variant annotation, filtering, and viewing interface for WES data) and variants were filtered based on inheritance patterns, gene lists of interest, phenotype and population frequencies, as appropriate with resources listed previously [18]. The general assertion criteria for variant classification are publicly available on the GeneDx ClinVar submission page (http://www.ncbi.nlm.nih.gov/clinvar/submitters/26957/).…”
Section: Methodsmentioning
confidence: 99%