DiGeorge syndrome is the most frequent contiguous-gene deletion syndrome in humans, occurring with an estimated frequency of 1 in 4,000 live births. Extensive microdeletion mapping in a large number of affected individuals has failed to identify a single gene or a combination of genes commonly deleted. Two new studies implicate the transcription factor TBX1 as a key candidate gene for the aortic arch malformations seen in DGS, and are consistent with the concept that some congenital diseases are caused by a reduced dosage of genes that control development. However, a similar study focusing on the adaptor protein Crkol shows that other genes within the deleted regions might affect the same developmental pathways.
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Note added in proof: An independent report by Merscher et al.17on the involvement of TBX1 in DGS is in press at Cell.
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Schinke, M., Izumo, S. Deconstructing DiGeorge syndrome. Nat Genet 27, 238–240 (2001). https://doi.org/10.1038/85784
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DOI: https://doi.org/10.1038/85784
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