Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome (original) (raw)

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Acknowledgements

We thank the Genome of the Netherlands Project (GoNL) for providing their variant data. GoNL is one of the rainbow projects of the Dutch hub of the Biobanking and Biomolecular Research Infrastructure (BBMRI-NL). We thank S. Olabarriaga and M. Santcroos for their support in using the Dutch Grid for data analysis. We thank T.J.L. de Ravel and P. Brady for critical reading of the manuscript and G. Peeters for technical support. We are grateful to the subjects and their families for participating in this study. This work was made possible by grants from the Agency for Innovation by Science and Technology (IWT; SBO-60848), the Catholic University of Leuven (PFV/10/016 SymBioSys and GOA/12/015 to J.R.V., Y.M. and K.D.), the Queen Elisabeth Medical Foundation (GSKE 1113 to D. Hu and E.S.) and the type 3 large-infrastructure support InfraMouse by the Flanders Hercules Foundation (to D. Hu). B.A.N. is supported by a KOLUMB fellowship from the Foundation for Polish Science. S.B.S. was supported by the Fundação Para a Ciência e Tecnologia (SFRH/BD/46778/2008).

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Author notes

1. Jeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa and Barbera D C van Schaik: These authors contributed equally to this work.
2. Raoul Hennekam and Joris Robert Vermeesch: These authors jointly directed this work.

Authors and Affiliations

1. Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium
   Jeroen K J Van Houdt, Beata Anna Nowakowska, Jean-Pierre Fryns, Annick Vogels, Koenraad Devriendt & Joris Robert Vermeesch
2. Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
   Beata Anna Nowakowska, Jakub Klapecki & Ewa Obersztyn
3. Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
   Sérgio B Sousa
4. Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Coimbra, Portugal
   Sérgio B Sousa
5. Department of Clinical Epidemiology, Bioinformatics Laboratory, Biostatistics and Bioinformatics, Academic Medical Center, Amsterdam, The Netherlands
   Barbera D C van Schaik & Antoine H C van Kampen
6. Laboratory of Molecular Biology (Celgen), Center for Human Genetics, Catholic University Leuven, Leuven, Belgium
   Eve Seuntjens & Danny Huylebroeck
7. Department of Molecular and Developmental Genetics, Flanders Institute for Biotechnology, Leuven, Belgium
   Eve Seuntjens & Danny Huylebroeck
8. Department of Molecular Microbiology, Flanders Institute for Biotechnology, Leuven, Belgium
   Nelson Avonce & Patrick Van Dijck
9. Laboratory of Molecular Cell Biology, Catholic University Leuven, Leuven, Belgium
   Nelson Avonce & Patrick Van Dijck
10. Department of Electrical Engineering (ESAT), Catholic University Leuven, Leuven, Belgium
    Alejandro Sifrim & Yves Moreau
11. Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA
    Omar A Abdul-Rahman
12. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Marie-José H van den Boogaard
13. Department of Genetic and Laboratory Medicine, Geneva University Hospitals, Geneva, Switzerland
    Armand Bottani
14. Department of Molecular Medicine, Medical Genetics, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
    Marco Castori
15. Département de Génétique, Université Paris Descartes, Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker–Enfants Malades, Paris, France
    Valérie Cormier-Daire
16. Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Matthew A Deardorff
17. Division of Medical Genetics, Department of Biomedicine, University Children's Hospital, Basel, Switzerland
    Isabel Filges
18. Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool, and Liverpool Women's Hospital, Liverpool, UK
    Alan Fryer
19. Medical Genetics, University of Pavia, Pavia, Italy
    Simone Gana
20. Department of Obstetric and Pediatric, Clinical Genetics Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Santa Maria Nuova Hospital, Reggio Emilia, Italy
    Livia Garavelli
21. Institute of Human Genetics, Universitaet zu Luebeck, Luebeck, Germany
    Gabriele Gillessen-Kaesbach
22. Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA
    Bryan D Hall
23. Institut für Medizinische Genetik, Humboldt-Universität, Berlin, Germany
    Denise Horn
24. Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland
    Malgorzata Krajewska-Walasek
25. Institut für Humangenetik, Universitätsklinikum, Essen, Germany
    Alma Kuechler & Dagmar Wieczorek
26. Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Matthew A Lines
27. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Saskia Maas & Raoul Hennekam
28. North West Thames Regional Genetics Service, Kennedy-Galton Center, London, UK
    Kay D MacDermot & Emma Wakeling
29. Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK
    Shane McKee & Alex Magee
30. Department of Pediatrics, Amphia Hospital, Breda, The Netherlands
    Stella A de Man
31. Department of Clinical Genetics, Erasmus University Medical School, Rotterdam, The Netherlands
    Stella A de Man
32. Service de Génétique Médicale, Laboratoire Maladies Rares–Génétique et Métabolisme (EA 4576), Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France
    Fanny Morice-Picard
33. Department of Child Neurology, Medical University of Silesia, Katowice, Poland
    Jacek Pilch
34. Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
    Elizabeth Rosser & Louise Wilson
35. Clinical Genetics Service, City Hospital, Nottingham, UK
    Nora Shannon
36. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Irene Stolte-Dijkstra
37. Department of Clinical Genetics, Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium
    Catheline Vilain
38. Medical Genetics, IRCCS, Neurological Institute C. Mondino, University of Pavia, Pavia, Italy
    Orsetta Zuffardi

Authors

1. Jeroen K J Van Houdt
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2. Beata Anna Nowakowska
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3. Sérgio B Sousa
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4. Barbera D C van Schaik
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5. Eve Seuntjens
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6. Nelson Avonce
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7. Alejandro Sifrim
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8. Omar A Abdul-Rahman
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9. Marie-José H van den Boogaard
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10. Armand Bottani
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11. Marco Castori
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12. Valérie Cormier-Daire
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13. Matthew A Deardorff
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14. Isabel Filges
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15. Alan Fryer
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16. Jean-Pierre Fryns
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17. Simone Gana
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18. Livia Garavelli
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19. Gabriele Gillessen-Kaesbach
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20. Bryan D Hall
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21. Denise Horn
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22. Danny Huylebroeck
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23. Jakub Klapecki
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24. Malgorzata Krajewska-Walasek
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25. Alma Kuechler
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26. Matthew A Lines
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27. Saskia Maas
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28. Kay D MacDermot
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29. Shane McKee
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30. Alex Magee
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31. Stella A de Man
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32. Yves Moreau
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33. Fanny Morice-Picard
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34. Ewa Obersztyn
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35. Jacek Pilch
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36. Elizabeth Rosser
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37. Nora Shannon
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38. Irene Stolte-Dijkstra
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39. Patrick Van Dijck
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40. Catheline Vilain
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41. Annick Vogels
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42. Emma Wakeling
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43. Dagmar Wieczorek
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44. Louise Wilson
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45. Orsetta Zuffardi
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46. Antoine H C van Kampen
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47. Koenraad Devriendt
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48. Raoul Hennekam
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49. Joris Robert Vermeesch
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Contributions

J.R.V., K.D., R.H. and S.B.S. designed the experiments. J.K.J.V.H., A.S., Y.M., A.H.C.v.K. and B.D.C.v.S. performed bioinformatic analyses. S.B.S. and R.H. collected the study subjects. B.A.N. performed the sequencing. E.S. and D. Hu performed immunostaining. B.A.N., N.A. and P.v.D. performed functional studies. O.A.A.-R., M.-J.H.v.d.B., A.B., M.C., V.C.-D., M.A.D., I.F., A.F., J.-P.F., L.G., S.G., G.G.-K., B.D.H., D. Ho, J.K., M.K.-W., A.K., K.D.M., M.A.L., S. Maas, S. McKee, A.M., S.A.d.M., F.M.-P., E.O., J.P., E.R., N.S., I.S.-D., C.V., A.V., E.W., D.W., L.W., O.Z., K.D. and R.H. contributed clinical cases and clinical data for the study. B.A.N., J.K.J.V.H., S.B.S., K.D., R.H. and J.R.V. wrote the manuscript.

Corresponding authors

Correspondence toRaoul Hennekam or Joris Robert Vermeesch.

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The authors declare no competing financial interests.

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Van Houdt, J., Nowakowska, B., Sousa, S. et al. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.Nat Genet 44, 445–449 (2012). https://doi.org/10.1038/ng.1105

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• Received: 11 October 2011
• Accepted: 12 January 2012
• Published: 26 February 2012
• Issue Date: April 2012
• DOI: https://doi.org/10.1038/ng.1105