Journal article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
JCH Sim, SM White, E Fitzpatrick, GR Wilson, G Gillies, K Pope, HS Mountford, PM Torring, S McKee, AT Vulto-Van Silfhout, SN Jhangiani, DM Muzny, RJ Leventer, MB Delatycki, DJ Amor, PJ Lockhart
Orphanet Journal of Rare Diseases | BMC | Published : 2014
Abstract
Background: Mutations in genes encoding components of the Brahma-associated factor (BAF) chromatin remodeling complex have recently been shown to contribute to multiple syndromes characterised by developmental delay and intellectual disability. ARID1B mutations have been identified as the predominant cause of Coffin-Siris syndrome and have also been shown to be a frequent cause of nonsyndromic intellectual disability. Here, we investigate the molecular basis of a patient with an overlapping but distinctive phenotype of intellectual disability, plantar fat pads and facial dysmorphism. Methods/results. High density microarray analysis of the patient demonstrated a heterozygous deletion at 6q25..
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Awarded by National Institutes of Health
Funding Acknowledgements
This work was funded in part by National Health and Medical Research Council Australia Program Grant 490037 to DJA. MBD is supported by an NHMRC Practitioner Fellowship (546452) and PJL is supported by an NHMRC Career Development Fellowship (APP1032364). This study was accomplished in part through the Centers for Mendelian Genomics research effort funded by the National Institutes of Health and supported by the National Human Genome Research Institute grant U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics. This work was made possible through Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS.