2014 Fiscal Year Final Research Report
Identification of disease-causing genes for Coffin-Siris syndrome
| Project/Area Number |
25860915
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Embryonic/Neonatal medicine
|
|---|
| Research Institution | Yokohama City University |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2013-04-01 – 2015-03-31
|
| Keywords | Coffin-Siris 症候群 / 疾患責任遺伝子 / 全エクソーム解析 |
|---|
| Outline of Final Research Achievements |
Coffin-Siris syndrome is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. The majority of affected individuals represent sporadic cases. The genetic cause for this syndrome has not been elucidated. We reported that five genes are mutated in CSS, all of which encode subunits of the Brahma-associated factor (BAF) (also known in yeast as the SWI/SNF) ATP-dependent chromatin-remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B. In addition, we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype.
|
| Free Research Field |
人類遺伝学
|
