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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References
Jerome, L.A. & Papaioannou, V.E. Nature Genet. 27, 286–291 (2001).
Lindsay, E.A. et al. Nature 409, (in press) (2001).
Guris, D.L., Fantes, J., Tara, D., Druker, B.J. & Imamoto, A. Nature Genet. 27, 293–298 (2001).
DiGeorge, A.M. Birth Defects Orig. Art. Ser. IV, 116–121 (1968).
Emanuel, B.S., Budarf, M.L. & Scambler P.J. Heart Development (eds. Harvey, R.P. & Rosenthal, N.) 463–478 (Academic, New York, 1998).
Moerman, P., Goddeeris, P., Lauwerijns, J. & Van der Hauwaert, L.G. Br. Heart J. 44, 452–459 (1980).
Farrell, M.J. et al. Circ. Res. 84, 127–35 (1999).
Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T. & Srivastava, D. Science 283, 1158–1161 (1999).
Lindsay, E.A. et al. Nature 401, 379–383 (1999).
Wilkie, A.O.M. et al. Nature Genet. 24, 391–395 (2000).
Biben, C. et al. Circ. Res. 87, 888–895 (2000).
Peters, H., Neubuser, A., Kratochwil, K. & Balling, R. Genes Dev. 12, 2735–2747 (1998).
Bamshad, M. et al. Nature Genet. 16, 311–315 (1997).
Basson, C.T. et al. Nature Genet. 15, 30–35 (1997).
Chieffo, C. et al. Genomics 43, 267–277 (1997).
Kimber, W.L. et al. Hum. Mol. Genet. 8, 2229–2237 (1999).
Merscher, S. et al. Cell 104, 1–20 (2001).
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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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