Article
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Journal of medical genetics - 1 Apr 2010
Posch Maximilian G, Gramlich Michael, Sunde Margaret, Schmitt Katharina R, Lee Stella H Y, Richter Silke, Kersten Andrea, Perrot Andreas, Panek Anna N, Al Khatib Iman H, Nemer Georges, Mégarbané André, Dietz Rainer, Stiller Brigitte, Berger Felix, Harvey Richard P, Ozcelik Cemil
Abstract excerpt
BACKGROUND: Ostium secundum atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD), and mutations in cardiac transcription factors, including TBX20, were identified as an underlying cause for ASDII. However, very little is known about disease penetrance in families and functional consequences of inherited TBX20 mutations. METHODS: The coding region of TBX20 was directly...
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