Schizophrenia Research
Volume 73, Issue 2 , Pages 263-267 , 1 March 2005

A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients

  • Anat Horowitz

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Sagiv Shifman

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Nechama Rivlin

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Anne Pisanté

      Affiliations

    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • ,
  • Ariel Darvasi

      Affiliations

    • Corresponding Author InformationCorresponding author. The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel. Tel.: +972-2-6584303; fax: +972-2-5671179.
    • The Life Science Institute, The Hebrew University of Jerusalem, Jerusalem 91904, Israel
    • IDgene Pharmaceuticals Ltd., Jerusalem 91344, Israel

Received 5 August 2003 ,Revised 5 February 2004 ,Accepted 17 February 2004.

References 

  1. Arinami T, Ohtsuki T, Takase K, Shimizu H, Yoshikawa T, Horigome H, et al. Screening for 22q11 deletions in a schizophrenia population. Schizophr. Res. 2001;52:167–170
  2. Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R. 22q11 deletion syndrome in adults with schizophrenia. Am. J. Med. Genet. 1998;81:328–337
  3. Benson G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res. 1999;27:573–580
  4. Bray NJ, Buckland PR, Williams NM, Williams HJ, Norton N, Owen MJ, et al. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am. J. Hum. Genet. 2003;73:152–161
  5. Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am. J. Hum. Genet. 1997;61:620–629
  6. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J. Med. Genet. 1993;30:813–817
  7. Glatt SJ, Faraone SV, Tsuang MT. Association between a functional catechol O-methyltransferase gene polymorphism and schizophrenia: meta-analysis of case-control and family-based studies. Am. J. Psychiatry. 2003;160:469–476
  8. Gothelf D, Frisch A, Munitz H, Rockah R, Aviram A, Mozes T, et al. Velocardiofacial manifestations and microdeletions in schizophrenic inpatients. Am. J. Med. Genet. 1997;72:455–461
  9. Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, et al  Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc. Natl. Acad. Sci. U. S. A. 1995;92:7612–7616
  10. Kennedy JL, Farrer LA, Andreasen NC, Mayeux R, St George-Hyslop P. The genetics of adult-onset neuropsychiatric disease: complexities and conundra?. Science. 2003;302:822–826
  11. Kurahashi H, Tsuda E, Kohama R, Nakayama T, Masuno M, Imaizumi K, et al. Another critical region for deletion of 22q11: a study of 100 patients. Am. J. Med. Genet. 1997;72:180–185
  12. Levy A, Demczuk S, Aurias A, Depetris D, Mattei MG, Philip N. Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum. Mol. Genet. 1995;4:2417–2419
  13. Lindsay EA. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat. Rev., Genet. 2001;2:858–868
  14. Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, et al. Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions. Am. J. Med. Genet. 1995;57:514–522
  15. Liu H, Abecasis GR, Heath SC, Knowles A, Demars S, Chen YJ, et al. Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Proc. Natl. Acad. Sci. U. S. A. 2002;99:16859–16864
  16. Murphy KC. Schizophrenia and velo-cardio-facial syndrome. Lancet. 2002;359:426–430
  17. Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch. Gen. Psychiatry. 1999;56:940–945
  18. Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, et al. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?. Am. J. Psychiatry. 1996;153:1541–1547
  19. Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M. A novel 22q11.2 microdeletion in DiGeorge syndrome. Am. J. Hum. Genet. 1999;64:659–666
  20. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 2000;132:365–386
  21. Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am. J. Hum. Genet. 1999;65:562–566
  22. Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 2000;9:489–501
  23. Shifman S, Bronstein M, Sternfeld M, Pisante-Shalom A, Lev-Lehman E, Weizman A, et al. A highly significant association between a COMT haplotype and schizophrenia. Am. J. Hum. Genet. 2002;71:1296–1302
  24. Usiskin SI, Nicolson R, Krasnewich DM, Yan W, Lenane M, Wudarsky M, et al. Velocardiofacial syndrome in childhood-onset schizophrenia. J. Am. Acad. Child Adolesc. Psych. 1999;38:1536–1543
  25. Vittorini S, Sacchelli M, Iascone MR, Collavoli A, Storti S, Giusti A, et al. Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects. Clin. Chem. Lab. Med. 2001;39:1249–1258
  26. Williams NM, Spurlock G, Norton N, Williams HJ, Hamshere ML, Krawczak M, et al. Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Mol. Psychiatry. 2002;7:1092–1100
  27. Wilson DI, Cross IE, Wren C, Scambler PJ, Burn J, Goodship J. Minimum prevalence of chromosome 22q11 deletions. Am. J. Hum. Genet. 1994;55

PII: S0920-9964(04)00060-X

doi: 10.1016/j.schres.2004.02.008

Schizophrenia Research
Volume 73, Issue 2 , Pages 263-267 , 1 March 2005

Article Tools