Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

GWE Santen; E Aten; Y Sun; R Almomani; C (Christian) Gilissen; M Nielsen; SG Kant; IN Snoeck; EAJ Peeters; Y Hilhorst-Hofstee; Marja Wessels; NS Hollander; CAL Ruivenkamp; GJB van Ommen; MH Breuning; JT Dunnen; A van Haeringen; M Kriek

doi:10.1038/ng.2217

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

GWE Santen, E Aten, Y Sun, R Almomani, C (Christian) Gilissen, M Nielsen, SG Kant, IN Snoeck, EAJ Peeters, Y Hilhorst-Hofstee, Marja Wessels, NS Hollander, CAL Ruivenkamp, GJB van Ommen, MH Breuning, JT Dunnen, A van Haeringen, M Kriek

Research output: Contribution to journal › Article › Academic › peer-review

260 Citations (Scopus)

Abstract

We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.

Original language	Undefined/Unknown
Pages (from-to)	379-380
Number of pages	2
Journal	Nature Genetics
Volume	44
Issue number	4
DOIs	https://doi.org/10.1038/ng.2217
Publication status	Published - 2012

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10.1038/ng.2217

http://hdl.handle.net/1765/54428

Cite this

Santen, GWE., Aten, E., Sun, Y., Almomani, R., Gilissen, C., Nielsen, M., Kant, SG., Snoeck, IN., Peeters, EAJ., Hilhorst-Hofstee, Y., Wessels, M., Hollander, NS., Ruivenkamp, CAL., van Ommen, GJB., Breuning, MH., Dunnen, JT., van Haeringen, A., & Kriek, M. (2012). Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nature Genetics, 44(4), 379-380. https://doi.org/10.1038/ng.2217

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title = "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome",

abstract = "We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.",

author = "GWE Santen and E Aten and Y Sun and R Almomani and Gilissen, {C (Christian)} and M Nielsen and SG Kant and IN Snoeck and EAJ Peeters and Y Hilhorst-Hofstee and Marja Wessels and NS Hollander and CAL Ruivenkamp and {van Ommen}, GJB and MH Breuning and JT Dunnen and {van Haeringen}, A and M Kriek",

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Santen, GWE, Aten, E, Sun, Y, Almomani, R, Gilissen, C, Nielsen, M, Kant, SG, Snoeck, IN, Peeters, EAJ, Hilhorst-Hofstee, Y, Wessels, M, Hollander, NS, Ruivenkamp, CAL, van Ommen, GJB, Breuning, MH, Dunnen, JT, van Haeringen, A & Kriek, M 2012, 'Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome', Nature Genetics, vol. 44, no. 4, pp. 379-380. https://doi.org/10.1038/ng.2217

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T1 - Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

AU - Santen, GWE

AU - Aten, E

AU - Sun, Y

AU - Almomani, R

AU - Gilissen, C (Christian)

AU - Nielsen, M

AU - Kant, SG

AU - Snoeck, IN

AU - Peeters, EAJ

AU - Hilhorst-Hofstee, Y

AU - Wessels, Marja

AU - Hollander, NS

AU - Ruivenkamp, CAL

AU - van Ommen, GJB

AU - Breuning, MH

AU - Dunnen, JT

AU - van Haeringen, A

AU - Kriek, M

PY - 2012

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AB - We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.

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DO - 10.1038/ng.2217

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JO - Nature Genetics

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