Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

Vimla S. Aggarwal, Bernice E. Morrow

Research output: Contribution to journalReview articlepeer-review

44 Scopus citations


Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that Tbx1, a T-box containing transcription factor present on the deleted region, is likely responsible for the etiology of the syndrome. Furthermore, mutations in TBX1 have been found in rare non-deleted patients. Despite having the same sized deletion, most VCFS/DGS patients exhibit significant clinical variability. Stochastic, environmental and genetic factors likely modify the phenotype of patients with the disorder. Here, we review mouse genetics studies, which may help identify possible genetic modifiers for the physical malformations in VCFS/DGS.

Original languageEnglish (US)
Pages (from-to)19-25
Number of pages7
JournalDevelopmental Disabilities Research Reviews
Issue number1
StatePublished - 2008


  • DiGeorge syndrome
  • Genetic modifiers
  • Tbx1
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health


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