Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation

2015 Fiscal Year Final Research Report

• Project/Area Number: 24591498
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: KOBAYASHI Tomoko 東北大学, 東北メディカル・メガバンク機構, 助教 (50436119)
• Co-Investigator(Kenkyū-buntansha): KURE Shigeo 東北大学, 医学(系)研究科(研究院), 教授 (10205221) ; KAWAME Hiroshi 東北大学, 東北メディカル・メガバンク機構, 教授 (60246395) ; MATSUBARA Yoichi 国立研究開発法人国立成育医療研究センター, 研究所, 研究所長 (00209602)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 先天異常症候群 / 遺伝学的検査 / 遺伝カウンセリング / ヌーナン症候群 / RAF1遺伝子 / ヌーナン症候群類縁疾患

Outline of Final Research Achievements

（1） To collect detailed symptomes of 9 Noonan syndrome patients with RAF1 mutation has revealed longer-term natural history such as 4 cases died before school age and 4 patients in 5 cases go to a resource room.
（２) We build the system needed that patient with multiple malformations such as Noonan syndrome is genetically diagnosed. Concretely speaking, we innovated chromosomal microarray analysis. Additionally, systematic review has revealed psychosocial impact of chromosomal microarray analysis for patient's family. In the result, we make a recommendation about existence of genetic counceling before and after chromosomal microarray analysis.

Free Research Field

臨床遺伝学