De novo SOX11 mutations cause Coffin–Siris syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-06-02

AUTHORS

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, Naomichi Matsumoto

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. More... »

PAGES

4011

Journal

TITLE

Nature Communications

ISSUE

1

VOLUME

5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ncomms5011

DOI

http://dx.doi.org/10.1038/ncomms5011

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048014942

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24886874


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