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De novo SOX11 mutations cause Coffin–Siris syndrome

Author

Listed:
  • Yoshinori Tsurusaki

    (Yokohama City University Graduate School of Medicine)

  • Eriko Koshimizu

    (Yokohama City University Graduate School of Medicine)

  • Hirofumi Ohashi

    (Saitama Children’s Medical Center)

  • Shubha Phadke

    (Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Rd, Lucknow 226014, India)

  • Ikuyo Kou

    (Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN)

  • Masaaki Shiina

    (Yokohama City University Graduate School of Medicine)

  • Toshifumi Suzuki

    (Yokohama City University Graduate School of Medicine
    Juntendo University)

  • Nobuhiko Okamoto

    (Osaka Medical Center and Research Institute for Maternal and Child Health)

  • Shintaro Imamura

    (National Research Institute of Fisheries Science)

  • Michiaki Yamashita

    (National Research Institute of Fisheries Science)

  • Satoshi Watanabe

    (Nagasaki University Graduate School of Biomedical Sciences)

  • Koh-ichiro Yoshiura

    (Nagasaki University Graduate School of Biomedical Sciences)

  • Hirofumi Kodera

    (Yokohama City University Graduate School of Medicine)

  • Satoko Miyatake

    (Yokohama City University Graduate School of Medicine)

  • Mitsuko Nakashima

    (Yokohama City University Graduate School of Medicine)

  • Hirotomo Saitsu

    (Yokohama City University Graduate School of Medicine)

  • Kazuhiro Ogata

    (Yokohama City University Graduate School of Medicine)

  • Shiro Ikegawa

    (Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN)

  • Noriko Miyake

    (Yokohama City University Graduate School of Medicine)

  • Naomichi Matsumoto

    (Yokohama City University Graduate School of Medicine)

Abstract

Coffin–Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. SOX11 is the downstream transcriptional factor of the PAX6–BAF complex, highlighting the importance of the BAF complex and SOX11 transcriptional network in brain development.

Suggested Citation

  • Yoshinori Tsurusaki & Eriko Koshimizu & Hirofumi Ohashi & Shubha Phadke & Ikuyo Kou & Masaaki Shiina & Toshifumi Suzuki & Nobuhiko Okamoto & Shintaro Imamura & Michiaki Yamashita & Satoshi Watanabe & , 2014. "De novo SOX11 mutations cause Coffin–Siris syndrome," Nature Communications, Nature, vol. 5(1), pages 1-7, September.
    • Handle: RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms5011
    DOI: 10.1038/ncomms5011
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    Cited by:

    1. Marco Angelozzi & Anirudha Karvande & Véronique Lefebvre, 2024. "SOXC are critical regulators of adult bone mass," Nature Communications, Nature, vol. 15(1), pages 1-18, December.

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