Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome (original) (raw)

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Acknowledgements

We thank the subjects and their parents for participation in this study. We would like to acknowledge A. Hoischen for his useful suggestions regarding the interpretation of exome sequencing data. We received funding from the European Union Seventh Framework Programme for Research (FP7; 223026 (Development of Targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders (NMD-Chip)) and 223143; Technological Innovation of High Throughput Molecular Diagnostics of Clinically and Molecularly Heterogeneous Genetic Disorders (TECHGENE)). All participants in this study provided informed consent. The Leiden University Medical Center ethics committee has approved the protocol describing genetic studies in individuals with intellectual disability of unknown etiology.

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Author notes

  1. Arie van Haeringen and Marjolein Kriek: These authors jointly directed this work.

Authors and Affiliations

  1. Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Gijs W E Santen, Emmelien Aten, Yu Sun, Rowida Almomani, Maartje Nielsen, Sarina G Kant, Yvonne Hilhorst-Hofstee, Nicolette S den Hollander, Claudia A L Ruivenkamp, Gert-Jan B van Ommen, Martijn H Breuning, Johan T den Dunnen, Arie van Haeringen & Marjolein Kriek
  2. Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Christian Gilissen
  3. Department of Child Neurology, Juliana Children's Hospital–Haga Teaching Hospital, The Hague, The Netherlands
    Irina N Snoeck & Els A J Peeters
  4. Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Marja W Wessels
  5. Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands
    Johan T den Dunnen
  6. Department of Clinical Genetics, Juliana Children's Hospital–Haga Teaching Hospital, The Hague, The Netherlands
    Arie van Haeringen

Authors

  1. Gijs W E Santen
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  2. Emmelien Aten
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  3. Yu Sun
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  4. Rowida Almomani
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  5. Christian Gilissen
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  6. Maartje Nielsen
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  7. Sarina G Kant
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  8. Irina N Snoeck
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  9. Els A J Peeters
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  10. Yvonne Hilhorst-Hofstee
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  11. Marja W Wessels
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  12. Nicolette S den Hollander
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  13. Claudia A L Ruivenkamp
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  14. Gert-Jan B van Ommen
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  15. Martijn H Breuning
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  16. Johan T den Dunnen
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  17. Arie van Haeringen
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  18. Marjolein Kriek
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Contributions

G.W.E.S. analyzed the data and wrote the manuscript. E.A., G.-J.B.v.O., M.H.B., J.T.d.D., A.v.H. and M.K. conceived and designed the experiments. E.A., Y.S. and R.A. performed the experiments. C.G. contributed analysis tools. M.N., S.G.K., I.N.S., E.A.J.P., M.W.W., N.S.d.H., Y.H.-H. and A.v.H. clinically characterized the subjects. C.A.L.R. analyzed SNP array data. A.v.H. selected the subjects for sequencing. A.v.H. and M.K. jointly supervised the research. All authors contributed to the final manuscript.

Corresponding author

Correspondence toGijs W E Santen.

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The authors declare no competing financial interests.

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Santen, G., Aten, E., Sun, Y. et al. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.Nat Genet 44, 379–380 (2012). https://doi.org/10.1038/ng.2217

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