DiGeorge subtypes of nonsyndromic conotruncal defects: Evidence against a major role of TBX1 gene

Emanuela Conti, Nicoletta Grifone, Anna Sarkozy, Caterina Tandoi, Bruno Marino, Maria Cristina Digilio, Rita Mingarelli, Antonio Pizzutti, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

The role of the 22q11 region genes, and among them TBX1, in nonsyndromic conotruncal defects (CTDs) is still unclear. Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS). Mutation analysis of the TBX1 gene in isolated, nonsyndromic CTDs has not demonstrated any functional pathogenetic variation so far. We screened the TBX1 gene in 41 patients affected by nonsyndromic CTDs of the DGS/VCFS subtype, principally 'atypical' tetralogy of Fallot. Besides a few polymorphisms, we did not find any pathogenetic variation. These results do not support a major role of the TBX1 gene as responsible for human nonsyndromic CTDs.

Original languageEnglish
Pages (from-to)349-351
Number of pages3
JournalEuropean Journal of Human Genetics
Volume11
Issue number4
DOIs
Publication statusPublished - Apr 1 2003

Keywords

  • Conotruncal heart defects
  • DiGeorge/Velo-cardio-facial syndrome
  • TBX1

ASJC Scopus subject areas

  • Genetics(clinical)

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