Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.
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.
Aggarwal
Vimla S
VS
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Morrow
Bernice E
BE
D000818:Animals; D020029:Base Pairing / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D051379:Mice; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D005819:Genetic Markers