Genetic and genomic analysis on the patients with multiple congenital anomalies

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461538
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kanagawa Children's Medical Center (Clinical Research Institute)
• Principal Investigator: Kurosawa Kenji 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, 部門長 (20277031)
• Research Collaborator: NARUTO Takuya 徳島大学, 大学院医歯薬学研究部人類遺伝学, 助教 (60438124) ; 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, 主任研究員 (70392040) ; ENOMOTO Yumi 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, 研究員 (20506290)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 多発奇形 / 精神遅滞 / 次世代シーケンス / エクソーム解析 / マイクロアレイ / ゲノム支援 / copy number variant

Outline of Final Research Achievements

Uncovering the molecular mechanism for birth defects is critical to understand the biological mechanism of human development. To elucidate the causative gene responsible for multiple congenital anomalies of unknown origin, we performed whole exome sequence on the patients with the disorders. This work was supported by MEXT KAKENHI (No.221S0002). 31 patients were enrolled after first screening with standard karyotyping and cytogenetic microarray. Of 31 patients, the causative genomic variants for the disorders could be identified in 9 families (30%). Further analysis will be required to identify the molecular mechanism for these congenital anomalies.

Free Research Field

小児科学