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To the editor:We were pleased to read the recent study in Circulation Research by Postma et al1 that describes an activation mutation in TBX5 that causes Holt–Oram syndrome. These exciting findings validate prior studies (reviewed elsewhere2) showing that cytogenetic abnormalities that produce TBX5 duplication (and presumed TBX5 overexpression) result in phenotypes that include Holt–Oram syndrome associated abnormalities. Moreover, we3,4 and others5 have previously demonstrated in experimental models that cell biological consequences of diminished and augmented Tbx5 expression are similar. In aggregate, these prior findings and the current data support a model6 in which Tbx5 dosage must …

Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt–Oram Syndrome