The search for causative gene in Coffin-Siris syndrome

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19660
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Kanagawa Children's Medical Center (Clinical Research Institute)
• Principal Investigator: Tsurusaki Yoshinori 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 主任研究員 (70392040)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: Coffin-Siris症候群 / 疾患責任遺伝子 / 次世代シークエンス解析

Outline of Final Research Achievements

Coffin-Siris syndrome (CSS; MIM 135900), first described by Coffin and Siris in 1970, 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. In the all patients, 88 out of 148 CSS patients (59.5 %) carry a mutation in one of five genes encoding a BAF complex subunit or SOX11; SMARCB1 (10 of 148 patients, 6.8 %), SMARCA4 (14 of 148 patients, 9.5 %), SMARCE1 (2 of 148 patients, 1.4 %), ARID1A (6 of 148 patients, 4.1 %), ARID1B (54 of 148 patients, 36.5 %) or SOX11 (2 of 148 patients, 1.4 %).

Free Research Field

人類遺伝学