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.
Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: is there a common genetic pathway? / Vitelli, F.; Baldini, A.. - In: TRENDS IN GENETICS. - ISSN 0168-9525. - 19:(2003), pp. 588-593. [10.1016/j.tig.2003.09.002]
Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: is there a common genetic pathway?
A. Baldini
Writing – Review & Editing
2003
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
