Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: Is there a common genetic pathway?

Francesca Vitelli, Antonio Baldini

Research output: Contribution to journalArticlepeer-review

Abstract

Most DiGeorge syndrome (DGS) patients have a similar chromosomal 22q11.2 deletion (del22q11) but show great clinical variability, suggesting the presence of genetic modifiers. We review recent mouse studies describing DGS-like phenotypes associated with mutations in genes not included in del22q11. It is reasonable to predict that mutations at these loci in humans might cause DGS in patients without del22q11, or could modify the del22q11 phenotype. We discuss how these loci might interact with the leading DGS candidate gene, the transcription factor Tbx1.

Original languageEnglish
Pages (from-to)588-593
Number of pages6
JournalTrends in Genetics
Volume19
Issue number11
DOIs
Publication statusPublished - Nov 2003

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: Is there a common genetic pathway?'. Together they form a unique fingerprint.

Cite this