PUBLICATION
De novo SOX11 mutations cause Coffin-Siris syndrome
- Authors
- Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., Watanabe, S., Yoshiura, K.I., Kodera, H., Miyatake, S., Nakashima, M., Saitsu, H., Ogata, K., Ikegawa, S., Miyake, N., Matsumoto, N.
- ID
- ZDB-PUB-140603-3
- Date
- 2014
- Source
- Nature communications 5: 4011 (Journal)
- Registered Authors
- Yamashita, Michiaki
- Keywords
- none
- MeSH Terms
-
- Animals
- Zebrafish Proteins/genetics*
- SOXC Transcription Factors/genetics*
- Abnormalities, Multiple/genetics*
- Adolescent
- PubMed
- 24886874 Full text @ Nat. Commun.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping