| 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)
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| 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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