2023 Fiscal Year Final Research Report
Comprehensive genetic analysis of idiopathic short stature in search of novel responsible genes
| Project/Area Number |
19K17287
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Tohoku University |
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Principal Investigator |
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| Project Period (FY) |
2019-04-01 – 2024-03-31
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| Keywords | 低身長 / コピー数異常 / 全ゲノムシークエンス / アレイCGH |
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| Outline of Final Research Achievements |
In this study, patients with short stature were divided into two groups according to their symptomatic status. 6 participants with short stature as a partial manifestation of a syndrome were identified as having SHOX abnormalities in 2 participants and other chromosomal abnormalities in 4 participants. 35 participants with short stature without visible external malformations were identified as having no SHOX abnormalities and other rare variants in 3 participants. 2 participants with SHOX abnormality had LeriWeill syndrome with Madelung deformity. These results demonstrate the importance of copy number analysis in patients with symptomatic short stature, but also the importance of further analysis in patients with idiopathic short stature.
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| Free Research Field |
小児内分泌学
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| Academic Significance and Societal Importance of the Research Achievements |
身長は80%以上を遺伝学的な要因によって決定されていますが，その遺伝子異常はよくわかっていません．私たちは，低身長患者のうち，複数の体の変化を有する患者さんでは低身長に染色体の一部が短くなる変化が比較的多く含まれていることを明らかにしました．一方，何らかの症状を合併していない患者さんでは染色体の長さの変化の関与は小さいと考えられます．本研究の成果は，今後の低身長患者さんの病態を検討する際の基礎的な資料になるとともに，現在研究でしか行われていない検査がひろく普及することの重要性を示すものです．
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