Abstract
DiGeorge syndrome is a common congenital disorder characterized by neural-crest-related developmental defects. Mouse models of DiGeorge syndrome have been created that recapitulate defects seen in human patients. Here, the genetic pathways regulating cardiac neural crest development are reviewed and the evidence implicating TBX1 and other genes on chromosome 22q11 in the pathogenesis of DiGeorge syndrome is summarized.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Animals
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Chromosomes, Human, Pair 22 / genetics
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DiGeorge Syndrome / embryology
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DiGeorge Syndrome / etiology
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DiGeorge Syndrome / genetics*
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Disease Models, Animal
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Heart Defects, Congenital / embryology
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Heart Defects, Congenital / genetics
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Humans
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Mice
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Mice, Knockout
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Mice, Mutant Strains
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Mice, Transgenic
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T-Box Domain Proteins / genetics
Substances
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T-Box Domain Proteins
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TBX1 protein, human
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Tbx1 protein, mouse