Congenital heart defects and 22q11 deletions: Which genes count?

Elizabeth A. Lindsay, Antonio Baldini

Research output: Contribution to journalArticlepeer-review


Hemizygous deletions on the long arm of chromosome 22 (del22q11) are relatively common cause of congenital heart disease. For some specific heart defects such as interrupted aortic arch type B and tetralogy of Fallot with absent pulmonary valve, del22q11 is probably the most frequent genetic cause. Although extensive gene searches have been successful in discovering many novel genes in the deleted segment, standard positional cloning has so far failed to demonstrate a role for any of these genes in the disease. We show how the use of experimental animal models is beginning to provide an insight into the developmental role of some of these genes, while novel genome manipulation technologies promise to dissect the genetic aspects of this complex syndrome.

Original languageEnglish
Pages (from-to)350-357
Number of pages8
JournalMolecular Medicine Today
Issue number8
Publication statusPublished - Aug 1 1998

ASJC Scopus subject areas

  • Genetics
  • Molecular Medicine

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