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

Vimla S. Aggarwal, Bernice E. Morrow

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

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
Volume14
Issue number1
DOIs
StatePublished - 2008

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DiGeorge Syndrome
Base Pairing
Transcription Factors
Phenotype
Mutation

Keywords

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

ASJC Scopus subject areas

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

Cite this

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome. / Aggarwal, Vimla S.; Morrow, Bernice E.

In: Developmental Disabilities Research Reviews, Vol. 14, No. 1, 2008, p. 19-25.

Research output: Contribution to journalArticle

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