De novo SOX11 mutations cause Coffin–Siris syndrome

Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, Shubha Phadke, Ikuyo Kou, Masaaki Shiina, Toshifumi Suzuki, Nobuhiko Okamoto, Shintaro Imamura, Michiaki Yamashita, Satoshi Watanabe, Koh-ichiro Yoshiura, Hirofumi Kodera, Satoko Miyatake, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Shiro Ikegawa, Noriko Miyake and Naomichi Matsumoto ()
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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
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

Nature Communications, 2014, vol. 5, issue 1, 1-7

Abstract: 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.

Date: 2014
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DOI: 10.1038/ncomms5011

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