TBX2 gene duplication associated with complex heart defect and skeletal malformations

Research output: Contribution to journalArticle

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 hypoaplasia of the distal phalanges. ASNP-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.

Original languageEnglish
Pages (from-to)2061-2066
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number8
DOIs
Publication statusPublished - Aug 2010

Fingerprint

Gene Duplication
Patent Foramen Ovale
Tricuspid Valve Insufficiency
Aortic Coarctation
Gene Dosage
Congenital Heart Defects
Mitral Valve Stenosis
Intellectual Disability
Genes
Extremities
Animal Models
Growth
Cerebellar Hypoplasia

Keywords

  • 17q23.2 duplication
  • Gene dosage
  • Heart defects
  • Skeletal anomalies
  • SNP-array
  • TBX2 gene

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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title = "TBX2 gene duplication associated with complex heart defect and skeletal malformations",
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 hypoaplasia of the distal phalanges. ASNP-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.",
keywords = "17q23.2 duplication, Gene dosage, Heart defects, Skeletal anomalies, SNP-array, TBX2 gene",
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AU - Bernardini, Laura

AU - Loddo, Sara

AU - Bottillo, Irene

AU - Novelli, Antonio

AU - Mingarelli, Rita

AU - Dallapiccola, Bruno

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AB - 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. ASNP-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.

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