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The 22q11.2 Deletion Syndrome and TBX1 

The 22q11.2 Deletion Syndrome and TBX1
Chapter:
The 22q11.2 Deletion Syndrome and TBX1
Author(s):

Bernice E. Morrow

, Donna M. Mcdonald-Mcginn

, and Beverly S. Emanuel

DOI:
10.1093/med/9780199934522.003.0120
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date: 07 March 2021

This chapter focuses on the 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial/DiGeorge syndrome), a congenital malformation disorder in which most patients have a hemizygous 1.5-3 Mb (million base pair) deletion. The syndrome is characterized by craniofacial, immune and cardiovascular defects as well as learning disabilities and psychiatric disorders. The TBX1 gene maps within the proximal 1.5 Mb 22q11.2 region and it encodes an important transcription factor required for embryonic development. By taking mouse genetic approaches, Tbx1 was found to be a strong candidate for many of the physical malformations occurring in 22q11DS patients. The syndrome is characterized by variable phenotypic expression. Much effort has been focused on identification of genes that may act in the genetic pathway of Tbx1. This would shed light onto the molecular pathogenesis of the disorder and implicate some of them as genetic modifiers of the overall phenotype. Although this chapter focuses primarily on one gene, Tbx1, and one class of anomalies, cardiovascular, it serves as a model to understand additional genes and other anomalies occurring in 22q11DS patients.

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