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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

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Abstract

By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.

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Figure 1: Photographs of individuals with Coffin-Siris syndrome.

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Acknowledgements

We thank all the family members for participating in this study. This work was supported by research grants from the Ministry of Health, Labour and Welfare (to N. Miyake, H.S. and N. Matsumoto), the Japan Science and Technology Agency (to N. Matsumoto), the Strategic Research Program for Brain Sciences (to N. Matsumoto), the Japan Epilepsy Research Foundation (to H.S.) and the Takeda Science Foundation (to N. Matsumoto and N. Miyake). This study was also funded by a Grant-in-Aid for Scientific Research on Innovative Areas (Foundation of Synapse and Neurocircuit Pathology) from the Ministry of Education, Culture, Sports, Science and Technology of Japan (to N. Matsumoto), a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science (to N. Matsumoto), a Grant-in-Aid for Young Scientists from the Japan Society for the Promotion of Science (to N. Miyake and H.S.) and a Grant for 2011 Strategic Research Promotion of Yokohama City University (to N. Matsumoto). This study was performed at the Advanced Medical Research Center at Yokohama City University. Informed consent was obtained from all the families of affected individuals. The Institutional Review Board of Yokohama City University approved this study.

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Authors and Affiliations

  1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

    Yoshinori Tsurusaki, Satoko Miyatake, Ippei Okada, Takeshi Mizuguchi, Hiroshi Doi, Hirotomo Saitsu, Noriko Miyake & Naomichi Matsumoto

  2. Division of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan

    Nobuhiko Okamoto

  3. Division of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan

    Hirofumi Ohashi

  4. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan

    Tomoki Kosho, Keiko Wakui & Yoshimitsu Fukushima

  5. Division of Pediatrics, Japanese Red Cross Medical Center, Tokyo, Japan

    Yoko Imai & Yumiko Hibi-Ko

  6. Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Okinawa, Japan

    Tadashi Kaname & Kenji Naritomi

  7. Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan

    Hiroshi Kawame

  8. Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan

    Hiroshi Kawame

  9. Division of Pediatrics, Yamagata Prefectural and Sakata Municipal Hospital Organization, Nihonkai General Hospital, Sakata, Japan

    Tomomi Homma

  10. Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan

    Mitsuhiro Kato

  11. Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan

    Yoko Hiraki

  12. Department of Pediatrics, Jichi Medical University, Tochigi, Japan

    Takanori Yamagata

  13. Genetics Division, Department of Pediatrics, Los Angeles County and University of Southern California Medical Center, Keck School of Medicine, University of Southern California, Los Angeles, California, USA

    Shoji Yano

  14. Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan

    Seiji Mizuno

  15. Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, Koshigaya, Japan

    Satoru Sakazume, Takuma Ishii & Toshiro Nagai

  16. Nakagawa-No-Sato, Hospital for the Disabled, Saitama, Japan

    Takuma Ishii

  17. Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan

    Masaaki Shiina & Kazuhiro Ogata

  18. Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Ishikari-Tobetsu, Japan

    Tohru Ohta & Norio Niikawa

Authors
  1. Yoshinori Tsurusaki
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  2. Nobuhiko Okamoto
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  3. Hirofumi Ohashi
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  4. Tomoki Kosho
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  5. Yoko Imai
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  6. Yumiko Hibi-Ko
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  7. Tadashi Kaname
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  8. Kenji Naritomi
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  9. Hiroshi Kawame
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  10. Keiko Wakui
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  11. Yoshimitsu Fukushima
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  12. Tomomi Homma
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  13. Mitsuhiro Kato
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  14. Yoko Hiraki
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  15. Takanori Yamagata
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  16. Shoji Yano
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  17. Seiji Mizuno
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  18. Satoru Sakazume
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  19. Takuma Ishii
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  20. Toshiro Nagai
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  21. Masaaki Shiina
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  22. Kazuhiro Ogata
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  23. Tohru Ohta
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  24. Norio Niikawa
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  25. Satoko Miyatake
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  26. Ippei Okada
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  27. Takeshi Mizuguchi
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  28. Hiroshi Doi
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  29. Hirotomo Saitsu
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  30. Noriko Miyake
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  31. Naomichi Matsumoto
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Contributions

Y.T., S. Miyatake, I.O., H.D., H.S. and N. Miyake performed exome sequencing and Sanger sequencing. Y.T., M.S., K.O., I.O., T.M., H.D., H.S. and N. Miyake performed data management and analysis. N.O., H.O., T. Kosho, Y.I., Y.H.-K., T. Kaname, K.N., H.K., K.W., Y.F., T.H., M.K., Y.H., T.Y., S.Y., S. Mizuno, S.S., T.I., T.N., T.O. and N.N. provided clinical materials after careful evaluation. Y.T., N. Miyake and N. Matsumoto wrote the manuscript. N. Matsumoto designed and oversaw all aspects of the study.

Corresponding authors

Correspondence to Noriko Miyake or Naomichi Matsumoto.

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Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Text and Figures

Supplementary Methods, Supplementary Figures 1–8 and Supplementary Tables 1–3 (PDF 6781 kb)

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Tsurusaki, Y., Okamoto, N., Ohashi, H. et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44, 376–378 (2012). https://doi.org/10.1038/ng.2219

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  • DOI: https://doi.org/10.1038/ng.2219

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