FLNA mutations and thoracic aortic aneurysm/dissections : new roles in aortopathy in the young
Project/Area Number |
25461143
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Cardiovascular medicine
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Research Institution | National Cardiovascular Center Research Institute |
Principal Investigator |
Morisaki Hiroko 国立研究開発法人国立循環器病研究センター, 研究所, 室長 (40311451)
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Project Period (FY) |
2013-04-01 – 2016-03-31
|
Project Status |
Completed (Fiscal Year 2015)
|
Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
Keywords | FLNA遺伝子 / 異所性灰白質 / エーラスダンロス症候群 / 胸部大動脈瘤 / 僧帽弁閉鎖不全 / FLNA / 僧房弁閉鎖不全 / 血小板機能異常 |
Outline of Final Research Achievements |
FLNA was shown as a responsible gene for X-linked PNH. Recently cardiovascular involvement, including valve insufficiency or aortic aneurysm, was reported in several cases with FLNA mutations. We investigated incidence of FLNA mutation in 372 individuals with young-onset or familial TAAD and/or related connective tissue disorders, who were confirmed not to have any pathogenic mutation in FBN1, TGFBR1, TGFBR2, ACTA2 or SMAD3. FLNA mutations were identified in 7 probands ( 4males 3 females). Family study identified 5 more cases. All 6 male cases showed severe joint hypermobility but PNH were noticed in only 2 cases, while only 2 female cases showed mild joint hypermobility and 4 presented PNH. Aortic aneurysms were presented in 7 cases, and 3 cases needed aortic replacement surgery. 8 cases presented mitral valve insufficiency and 2 went through mitral valve replacement surgery. In total, cardiovascular involvement were common in FLNA mutation carriers.
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Report
(4 results)
Research Products
(13 results)
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[Journal Article] Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function2016
Author(s)
Oda H., Sato T., Kunishima S., Nakagawa K., Izawa K., Hiejima E., Kawai T., Yasui T., Doi H., Katamura K., Numabe H., Okamoto S., Nakase H., Hijikata A., Ohara O., Suzuki H., Morisaki H., Morisaki T., Nunoi H., Hattori S., Nishikomori R., Heike T.
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Journal Title
Eur J Hum Genet
Volume: 24
Issue: 3
Pages: 408-414
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations2015
Author(s)
Regalado ES, Guo DC, Prakash S,Bensend TA, Flynn K, Estrer A, Safi H, Liang D,Hyland J, Child A, Arno G, Boileau C, Jondeau G, Braverman A, Moran R, Morisaki T, Morisaki H, Pyeritz R, Coselli J, LeMaire S, Milewicz DM.
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Journal Title
Circ Cardiovasc Genet
Volume: 8
Issue: 3
Pages: 457-464
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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