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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

DiGeorge Syndrome

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Disease relevance of DiGeorge Syndrome


Psychiatry related information on DiGeorge Syndrome


High impact information on DiGeorge Syndrome


Chemical compound and disease context of DiGeorge Syndrome


Biological context of DiGeorge Syndrome


Anatomical context of DiGeorge Syndrome


Gene context of DiGeorge Syndrome

  • The increased prevalence of schizophrenia among patients with the 22q11 interstitial deletion associated with DiGeorge syndrome has suggested the existence of a susceptibility gene for schizophrenia within the DiGeorge syndrome chromosomal region (DGCR) on 22q11 [27].
  • Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation [28].
  • HIRA homologs are expressed in a regulated fashion during mouse and chicken embryogenesis, and the human gene is a major candidate for the DiGeorge syndrome and related developmental disorders caused by a reduction to single dose of a fragment of chromosome 22q [29].
  • We now report that one of them, ZNF74 gene, is hemizygously deleted in 23 out of 24 DiGeorge syndrome patients tested [30].
  • Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development [31].

Analytical, diagnostic and therapeutic context of DiGeorge Syndrome


  1. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Halford, S., Wadey, R., Roberts, C., Daw, S.C., Whiting, J.A., O'Donnell, H., Dunham, I., Bentley, D., Lindsay, E., Baldini, A. Hum. Mol. Genet. (1993) [Pubmed]
  2. Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. Davies, A.F., Stephens, R.J., Olavesen, M.G., Heather, L., Dixon, M.J., Magee, A., Flinter, F., Ragoussis, J. Hum. Mol. Genet. (1995) [Pubmed]
  3. Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Demczuk, S., Lévy, A., Aubry, M., Croquette, M.F., Philip, N., Prieur, M., Sauer, U., Bouvagnet, P., Rouleau, G.A., Thomas, G. Hum. Genet. (1995) [Pubmed]
  4. Brain capillary endothelial cells express MBEC1, a protein that is related to the Clostridium perfringens enterotoxin receptors. Chen, Z., Zandonatti, M., Jakubowski, D., Fox, H.S. Lab. Invest. (1998) [Pubmed]
  5. Primary immunodeficiency disorders in the Republic of Ireland: first report of the national registry in children and adults. Abuzakouk, M., Feighery, C. J. Clin. Immunol. (2005) [Pubmed]
  6. The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Gottlieb, S., Emanuel, B.S., Driscoll, D.A., Sellinger, B., Wang, Z., Roe, B., Budarf, M.L. Am. J. Hum. Genet. (1997) [Pubmed]
  7. A multiple case study of verbal short-term memory in velo-cardio-facial syndrome. Majerus, S., Glaser, B., Van der Linden, M., Eliez, S. Journal of intellectual disability research : JIDR. (2006) [Pubmed]
  8. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Merscher, S., Funke, B., Epstein, J.A., Heyer, J., Puech, A., Lu, M.M., Xavier, R.J., Demay, M.B., Russell, R.G., Factor, S., Tokooya, K., Jore, B.S., Lopez, M., Pandita, R.K., Lia, M., Carrion, D., Xu, H., Schorle, H., Kobler, J.B., Scambler, P., Wynshaw-Boris, A., Skoultchi, A.I., Morrow, B.E., Kucherlapati, R. Cell (2001) [Pubmed]
  9. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Guris, D.L., Fantes, J., Tara, D., Druker, B.J., Imamoto, A. Nat. Genet. (2001) [Pubmed]
  10. Hypoparathyroidism and the DiGeorge syndrome. Greenberg, F. N. Engl. J. Med. (1989) [Pubmed]
  11. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Stalmans, I., Lambrechts, D., De Smet, F., Jansen, S., Wang, J., Maity, S., Kneer, P., von der Ohe, M., Swillen, A., Maes, C., Gewillig, M., Molin, D.G., Hellings, P., Boetel, T., Haardt, M., Compernolle, V., Dewerchin, M., Plaisance, S., Vlietinck, R., Emanuel, B., Gittenberger-de Groot, A.C., Scambler, P., Morrow, B., Driscol, D.A., Moons, L., Esguerra, C.V., Carmeliet, G., Behn-Krappa, A., Devriendt, K., Collen, D., Conway, S.J., Carmeliet, P. Nat. Med. (2003) [Pubmed]
  12. Inactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome. Wurdak, H., Ittner, L.M., Lang, K.S., Leveen, P., Suter, U., Fischer, J.A., Karlsson, S., Born, W., Sommer, L. Genes Dev. (2005) [Pubmed]
  13. Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate. Gidding, S.S., Minciotti, A.L., Langman, C.B. N. Engl. J. Med. (1988) [Pubmed]
  14. Response to thymopoietin pentapeptide in patient with DiGeorge syndrome. Aiuti, F., Businco, L., Rossi, P., Quinti, I. Lancet (1980) [Pubmed]
  15. The teratogenic effects of a bis(dichloroacetyl)diamine on hamster embryos. Aortic arch anomalies and the pathogenesis of the DiGeorge syndrome. Binder, M. Am. J. Pathol. (1985) [Pubmed]
  16. Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia. Handoko, H.Y., Nyholt, D.R., Hayward, N.K., Nertney, D.A., Hannah, D.E., Windus, L.C., McCormack, C.M., Smith, H.J., Filippich, C., James, M.R., Mowry, B.J. Mol. Psychiatry (2005) [Pubmed]
  17. Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region. Heisterkamp, N., Mulder, M.P., Langeveld, A., ten Hoeve, J., Wang, Z., Roe, B.A., Groffen, J. Genomics (1995) [Pubmed]
  18. UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? Novelli, G., Amati, F., Dallapiccola, B. Trends Genet. (1999) [Pubmed]
  19. Vertebrate development requires ARVCF and p120 catenins and their interplay with RhoA and Rac. Fang, X., Ji, H., Kim, S.W., Park, J.I., Vaught, T.G., Anastasiadis, P.Z., Ciesiolka, M., McCrea, P.D. J. Cell Biol. (2004) [Pubmed]
  20. Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Desmaze, C., Prieur, M., Amblard, F., Aikem, M., LeDeist, F., Demczuk, S., Zucman, J., Plougastel, B., Delattre, O., Croquette, M.F. Am. J. Hum. Genet. (1993) [Pubmed]
  21. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Wilming, L.G., Snoeren, C.A., van Rijswijk, A., Grosveld, F., Meijers, C. Hum. Mol. Genet. (1997) [Pubmed]
  22. Isolation of cosmids and fetal brain cDNAs from the proximal long arm of human chromosome 22. Lamour, V., Lévy, N., Desmaze, C., Baude, V., Lécluse, Y., Delattre, O., Bernheim, A., Thomas, G., Aurias, A., Lipinski, M. Hum. Mol. Genet. (1993) [Pubmed]
  23. Cellular immunology in a historical perspective. Good, R.A. Immunol. Rev. (2002) [Pubmed]
  24. Cerebellar atrophy in a patient with velocardiofacial syndrome. Lynch, D.R., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Driscoll, D.A., Whitaker, L.A., Fischbeck, K.H. J. Med. Genet. (1995) [Pubmed]
  25. RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction. Maynard, T.M., Haskell, G.T., Bhasin, N., Lee, J.M., Gassman, A.A., Lieberman, J.A., LaMantia, A.S. Mech. Dev. (2002) [Pubmed]
  26. T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Pierdominici, M., Marziali, M., Giovannetti, A., Oliva, A., Rosso, R., Marino, B., Digilio, M.C., Giannotti, A., Novelli, G., Dallapiccola, B., Aiuti, F., Pandolfi, F. Clin. Exp. Immunol. (2000) [Pubmed]
  27. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Jacquet, H., Raux, G., Thibaut, F., Hecketsweiler, B., Houy, E., Demilly, C., Haouzir, S., Allio, G., Fouldrin, G., Drouin, V., Bou, J., Petit, M., Campion, D., Frébourg, T. Hum. Mol. Genet. (2002) [Pubmed]
  28. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Stoller, J.Z., Epstein, J.A. Hum. Mol. Genet. (2005) [Pubmed]
  29. Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. Lorain, S., Quivy, J.P., Monier-Gavelle, F., Scamps, C., Lécluse, Y., Almouzni, G., Lipinski, M. Mol. Cell. Biol. (1998) [Pubmed]
  30. Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Aubry, M., Demczuk, S., Desmaze, C., Aikem, M., Aurias, A., Julien, J.P., Rouleau, G.A. Hum. Mol. Genet. (1993) [Pubmed]
  31. Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development. Saint-Jore, B., Puech, A., Heyer, J., Lin, Q., Raine, C., Kucherlapati, R., Skoultchi, A.I. Hum. Mol. Genet. (1998) [Pubmed]
  32. T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome. Bensoussan, D., Le Deist, F., Latger-Cannard, V., Grégoire, M.J., Avinens, O., Feugier, P., Bourdon, V., André-Botté, C., Schmitt, C., Jonveaux, P., Eliaou, J.F., Stoltz, J.F., Bordigoni, P. Br. J. Haematol. (2002) [Pubmed]
  33. Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Shiohama, A., Sasaki, T., Noda, S., Minoshima, S., Shimizu, N. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  34. Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). Tharapel, A.T., Kadandale, J.S., Martens, P.R., Wachtel, S.S., Wilroy, R.S. Am. J. Med. Genet. (2002) [Pubmed]
  35. DiGeorge syndrome associated with multiple squamous cell carcinomas. Tewfik, H.H., Ptacek, J.J., Krause, C.J., Latourette, H.B. Archives of otolaryngology (Chicago, Ill. : 1960) (1977) [Pubmed]
  36. Transplantation of cultured thymic fragments: results in nude mice. IV. Effect of amount of thymic tissue. Manning, J.K., Hong, R. Thymus (1983) [Pubmed]
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