Establishment of next-generation comprehensive diagnostic system for patients with craniosynostosis and search for therapeutic targets

2016 Fiscal Year Final Research Report

• Project/Area Number: 26430194
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Medical genome science
• Research Institution: National Center for Child Health and Development (2015-2016); University of the Ryukyus (2014)
• Principal Investigator: Kaname Tadashi 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 部長 (40264288)
• Research Collaborator: NARITOMI Kenji 琉球大学, 名誉教授
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 頭蓋骨早期癒合 / ターゲットリシーケンス解析 / 全エクソーム解析 / 遺伝子パネル / 次世代シーケンサ

Outline of Final Research Achievements

There are many types of craniosynostosis. Clinical diagnosis and prediction of development and prognosis are difficult in some patients. Thus, we constructed a panel analysis system for craniosynostosis covering 37 disorders (28 genes) by target resequencing using a next-generation sequencer. The system targeted not only exons but also promoter region of the genes. We also performed whole exome analysis in undiagnosed patients. Out of 76 patients, 40 patients were genetically diagnosed by targeted resequencing analysis using the panel (diagnostic yield was 52.6%). Pathogenic variants in FGFR2, FGFR3, ASXL1, TWIST1 or ASXL3 were found in the patients with craniosynostosis. Whole exome sequencing analysis revealed pathogenic variant in the ASXL2 or FOXG1 gene in undiagnosed patients.

Free Research Field

遺伝医学