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
-
- Abnormalities, Multiple/genetics*
- Adolescent
- Animals
- Child, Preschool
- Cohort Studies
- Face/abnormalities*
- Female
- Gene Knockdown Techniques
- Hand Deformities, Congenital/genetics*
- Humans
- Intellectual Disability/genetics*
- Mice
- Micrognathism/genetics*
- Mutation
- Neck/abnormalities*
- SOX Transcription Factors/genetics*
- SOXC Transcription Factors/genetics*
- Zebrafish
- Zebrafish Proteins/genetics*
- PubMed
- 24886874 Full text @ Nat. Commun.
Citation
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. (2014) De novo SOX11 mutations cause Coffin-Siris syndrome. Nature communications. 5:4011.
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