Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (original) (raw)

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

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 toNoriko Miyake or Naomichi Matsumoto.

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Competing interests

The authors declare no competing financial interests.

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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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