| Project/Area Number |
18K07815
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
|
|---|
| Research Institution | Shinshu University |
|---|
Principal Investigator |
Takano Kyoko 信州大学, 学術研究院医学系(医学部附属病院), 講師 (70392420)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
涌井 敬子 信州大学, 学術研究院医学系, 講師 (50324249)
古庄 知己 信州大学, 学術研究院医学系, 教授 (90276311)
|
|---|
| Project Period (FY) |
2018-04-01 – 2024-03-31
|
| Project Status |
Completed (Fiscal Year 2023)
|
| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
|
|---|
| Keywords | 神経発達症 / 知的障害 / 自閉スペクトラム症 / てんかん / 次世代シークエンス解析 / マイクロアレイ染色体検査 / 遺伝的要因 / 疾患関連遺伝子カスタムパネル解析 / マイクロアレイ染色体解析 / 次世代シークエンス |
|---|
| Outline of Final Research Achievements |
Genetic testing has been carried out on 301 patients with neurodevelopmental disorders (NDDs), such as intellectual disability (ID), autism spectrum disorder, and epilepsy, who visited our hospital between April 2014 and March 2024. Genetic testing has been basically carried out in the following order unless patients are clinically diagnosed with specific genetic disorders. 1) Chromosomal microarray analysis and G-banded chromosome analysis, 2) Targeted next generation sequencing using custom panels for NDDs, 3) For some individuals, trio-based whole-exome sequencing. Total diagnostic yield was 46% (139/301).
Systematic genetic testing for patients with NDDs could be useful in providing definitive diagnosis, expected clinical course, and recurrence risk to patients and their family.
|
| Academic Significance and Societal Importance of the Research Achievements |
かつてID/DDの原因は中等度より重度は単一遺伝子疾患の可能性が高く、軽度は多因子と考えられていたが、本研究では知的障害/発達遅滞（DD）の重症度に関わらず、遺伝学的検査の陽性率は４～５割であった。ID/DDの軽重に関わらず神経発達症患者において、段階的な遺伝学的検査による原因検索は、確定診断につながり、合併症予防などの健康管理や遺伝カウンセリングに役立つと考えられた。
|
