Whole genome analysis of congenital malformations
| Project/Area Number |
17K10069
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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 | Kanagawa Children's Medical Center (Clinical Research Institute) |
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Principal Investigator |
Kurosawa Kenji 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 部門長 (20277031)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2018: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2017: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
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| Keywords | 先天異常 / 先天多発奇形 / エクソーム / マイクロアレイ / 遺伝カウンセリング / 遺伝的異質性 / 遺伝子 / ゲノム / 精神遅滞 |
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| Outline of Final Research Achievements |
Genetic research of congenital malformations of unknown etiology provides clues to clarify underlying mechanisms of pathophysiology and the universal function of genes involved in human development. We studied the patients with multiple congenital malformations using the whole exome sequencing and comprehensive genome analysis. During the study period, we identified several disease causing variants in the patients, including the new syndrome associated Desbuquois dysplasia caused by biallelic novel variants in FAM20B. Although the results were not directly related to treatment strategy, they will provide insight into the consideration of the pathological mechanisms and genetic counseling.
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| Academic Significance and Societal Importance of the Research Achievements |
研究によって、これまで報告のない遺伝子ゲノムの異常が、発症ならびに病態形成にかかわることを複数の家系で明らかにした。この中には、新規疾患概念の確立となったFAM20B遺伝子の両アレル性変異によるこれまで報告のない新しいDesbuquiois dysplasia類縁疾患（Kuroda et al., 2019）も含まれた。また、新しい病態を示した例として、Ellis-van Creveld症候群の1家系も報告した（Ohashi et al., 2019）。今回の結果は、直接の治療戦略には結びつかないものの、病態解析や遺伝カウンセリングに極めて有用な情報となった。
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Report
(4 results)
Research Products
(48 results)
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[Presentation] 9q34.11 deletion, including DNM1 and SPTAN1 but lacking STXBP1 causes a distinctive phenotype with intellectual disability, speech delay, and dysmorphic facial features.2018
Author(s)
Kurosawa K, Harada N, Saito T, Enomoto Y, Tsurusaki Y, Murakami H, Kuroda Y, Masuno M.
Organizer
American Society of Human Genetics 2018
Related Report
Int'l Joint Research
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