Article
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Circulation research - 6 Jun 2008
Postma Alex V, van de Meerakker Judith B A, Mathijssen Inge B, Barnett Phil, Christoffels Vincent M, Ilgun Aho, Lam Jan, Wilde Arthur A M, Lekanne Deprez Ronald H, Moorman Antoon F M
Abstract excerpt
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5 (TBX5) underlie this syndrome. Here, we describe a large atypical HOS family in which affected patients have mild skeletal deformations and paroxysmal atrial fibrillation, but few have congenital heart disease. Sequencing of TBX5 revealed a novel mutation,...
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