Cause elucidation of the severe fetal disease by the next-generation sequencer and establishment of the gene library

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K10690
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Obstetrics and gynecology
• Research Institution: Showa University
• Principal Investigator: Matsuoka Ryu 昭和大学, 医学部, 准教授 (20349111)
• Co-Investigator(Kenkyū-buntansha): 関沢 明彦 昭和大学, 医学部, 教授 (10245839) ; 四元 淳子 昭和大学, 医学部, 特別研究生 (30553648)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 骨系統疾患 / 遺伝子診断 / 遺伝カウンセリング

Outline of Final Research Achievements

This study is to establish the system to investigate the genetic cause of rare diseases i.e. hydrocephalus, anencephalia and bone dysplasia. The system also needs genetic counseling. We investigated the genome structure of the 4th repeated anencephalia thoroughly consecutively, but did not come to show the association with the disease only by extremely rare variation (polymorphism) or de novo variation. Perform genetic analysis under the genetic counseling for two holoprosencephaly and four bone dysplasia revealed the abnormal chromosome in holoprosencephaly and abnormal sequences of fibroblast growth factor receptor-3 gene in bone dysplasia. That genetic information was provided to the parents for making decision of subsequent pregnancy. We was able to achieve the establishment of the genetic inspection system for rare diseases.

Free Research Field

胎児診断