2019 Fiscal Year Final Research Report
Elucidation of mechanism for short stature with abnormal GH-IGF signaling
| Project/Area Number |
17K10078
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
伯野 史彦 東京大学, 大学院農学生命科学研究科(農学部), 助教 (30282700)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | 小児内分泌学 / 成長障害 / GH-IGFシグナル / IGF1R |
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| Outline of Final Research Achievements |
Targeted resequencing using TruSight One sequencing panels and direct PCR
sequencing were performed in 18 patients with unknown short stature. We
identified a heterozygous IGF1R mutation (p.Tyr 888 X) in two patients. The mutation result in defecit of the expression of IGF1R protein in transiently transfected cells.
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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 |
新たに2例のIGF1R遺伝子変異による成長障害を同定した。これまでの研究ではGH-IGFシグナル異常による成長障害は非常に稀とされているが、ある程度の割合で存在することが明らかになった。
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