Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 152A, Issue 8, Pages 2061-2066Publisher
WILEY
DOI: 10.1002/ajmg.a.33506
Keywords
17q23.2 duplication; gene dosage; heart defects; skeletal anomalies; SNP-array; TBX2 gene
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Funding
- Italian Ministry of Health
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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 hypoaplasia 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. (C) 2010 Wiley-Liss, Inc.
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