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TBX2 gene duplication associated with complex heart defect and skeletal malformations

✍ Scribed by Francesca Clementina Radio; Laura Bernardini; Sara Loddo; Irene Bottillo; Antonio Novelli; Rita Mingarelli; Bruno Dallapiccola

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
182 KB
Volume
152A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

We report on a patient with mild mental retardation, prenatal onset growth retardation, cerebellar hypoplasia, and complex heart defect including: interventricular septal defect, patent foramen ovale, aortic coarctation, tricuspid valve insufficiency, mitral valve stenosis, and minor skeletal anomalies with hypo‐aplasia of the distal phalanges. A SNP‐array analysis detected a de novo duplication of 17q23.2, encompassing the TBX2 gene. Animal models argue for a key role of Tbx2 during cardiac and limb development. Accordingly, we hypothesize that the heart malformation and mild digital anomalies found in this patient could be related to TBX2 gene overexpression, suggesting parallel consequences of TBX2 gene dosage imbalances in animals and in humans. © 2010 Wiley‐Liss, Inc.

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