Erratum: Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome (Human Molecular Genetics (2008) vol. 17 (24) (4045-4053) 10.1093/hmg/ddn307);Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

Human Molecular Genetics

Volumn 17, Issue 24, 2008, Pages 4045-4053

  Bassett, Anne S ^a,b,c   Marshall, Christian R ^d   Lionel, Anath C ^d   Chow, Eva W C ^a,b   Scherer, Stephen W ^d  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION Y; CHROMOSOME DUPLICATION; CHROMOSOME NUMBER; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; HEMIZYGOSITY; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; PARENTAL AGE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SCHIZOPHRENIA; SPERMATOGENESIS;

EID: 57049132697     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp082     Document Type: Erratum

References (49)

1. Oskarsdottir, S., Vujic, M. and Fasth, A. (2004) Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden. Arch. Dis. Child., 89, 148-151.
2. Edelmann, L., Pandita, R.K. and Morrow, B.E. (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet., 64, 1076-1086.
3. Shaikh, T.H., Kurahashi, H. and Emanuel, B.S. (2001) Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review. Genet. Med., 3, 6-13.
4. Thomas, N.S., Durkie, M., Potts, G., Sandford, R., Van Zyl, B., Youings, S., Dennis, N.R. and Jacobs, P.A. (2006) Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11. Eur. J. Hum. Genet., 14, 831-837.
5. Torres-Juan, L., Rosell, J., Sanchez-de-la-Torre, M., Fibla, J. and Heine-Suner, D. (2007) Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med. Genet., 8, 14.
6. Saitta, S.C., Harris, S.E., Gaeth, A.P., Driscoll, D.A., McDonald-McGinn, D.M., Maisenbacher, M.K., Yersak, J.M., Chakraborty, P.K., Hacker, A.M., Zackai, E.H. et al. (2004) Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum. Mol. Genet., 13, 417-428.
7. Weksberg, R., Stachon, A.C., Squire, J.A., Moldovan, L., Bayani, J., Meyn, S., Chow, E.W.C. and Bassett, A.S. (2007) Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum. Genet., 120, 837-845.
8. Bassett, A.S., Chow, E.W.C., Husted, J., Weksberg, R., Caluseriu, O., Webb, G.D. and Gatzoulis, M.A. (2005) Clinical features of 78 adults with 22q11 Deletion Syndrome. Am. J. Med. Genet. A, 138, 307-313.
9. Bassett, A.S. and Chow, E.W.C. (2008) Schizophrenia and 22q11.2 Deletion Syndrome. Curr. Psychiatry Rep., 10, 148-157.
10. Bassett, A.S., Bury, A., Hodgkinson, K.A. and Honer, W.G. (1996) Reproductive fitness in familial schizophrenia. Schizophr. Res., 21, 151-160.
11. Walsh, T., McClellan, J.M., McCarthy, S.E., Addington, A.M., Pierce, S.B., Cooper, G.M., Nord, A.S., Kusenda, M., Malhotra, D., Bhandari, A. et al. (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 320, 539-543.
12. Xu, B., Roos, J.L., Levy, S., van Rensburg, E.J., Gogos, J.A. and Karayiorgou, M. (2008) Strong association of de novo copy number mutations with sporadic schizophrenia. Nat. Genet., 40, 880-885.
13. Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E. et al. (2008) Large recurrent microdeletions associated with schizophrenia. Nature, 455, 232-236.
14. International Schizophrenia Consortium. (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455, 237-241.
15. Lupski, J.R. (2007) Genomic rearrangements and sporadic disease. Nat. Genet. (Supplement), 30, S43-S47.
16. Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y. et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet., 82, 477-488.
17. Mukherjee, O., Meera, P., Ghosh, S., Kubendran, S., Kiran, K., Manjunath, K.R., Subhash, M.N., Benegal, V., Brahmachari, S.K., Majumder, P.P. et al. (2006) Evidence of linkage and association on 18p11.2 for psychosis. Am. J. Med. Genet. B, 141, 868-873.
18. Faraone, S.V., Skol, A.D., Tsuang, D.W., Young, K.A., Haverstock, S.L., Prabhudesai, S., Mena, F., Menon, A.S., Leong, L., Sautter, F. et al. (2005) Genome scan of schizophrenia families in a large Veterans Affairs Cooperative Study sample: Evidence for linkage to 18p11.32 and for racial heterogeneity on chromosomes 6 and 14. Am. J. Med. Genet. B, 139, 91-100.
19. Zogopoulos, G., Ha, K.C., Naqib, F., Moore, S., Kim, H., Montpetit, A., Robidoux, F., Laflamme, P., Cotterchio, M., Greenwood, C. et al. (2007) Germ-line DNA copy number variation frequencies in a large North American population. Hum. Genet., 122, 345-353.
20. Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M.C., Erdogan, F., Owen, M.J., Ropers, H.H. et al. (2007) Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum. Mol. Genet., 17, 458-465.
21. Michaelovsky, E., Gothelf, D., Korostishevsky, M., Frisch, A., Burg, M., Carmel, M., Steinberg, T., Inbar, D., Apter, A. and Weizman, A. (2008) Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS. Int. J. Neuropsychopharmacol., 11, 351-363.
22. Eliez, S., Antonarakis, S.E., Morris, M.A., Dahoun, S.P. and Reiss, A.L. (2001) Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome. Arch. Gen. Psychiatry, 58, 64-68.
23. Maynard, T.M., Meechan, D.W., Heindel, C.C., Peters, A.Z., Hamer, R.M., Lieberman, J.A. and LaMantia, A.S. (2006) No evidence for parental imprinting of mouse 22q11 gene orthologs. Mamm. Genome, 17, 822-832.
24. Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., Scherer, S.W. and Lee, C. (2004) Detection of large-scale variation in the human genome. Nat. Genet., 36, 941-951.
25. Kidd, J.M., Cooper, G.M., Donahue, W.F., Hayden, H.S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F. et al. (2008) Mapping and sequencing of structural variation from eight human genomes. Nature, 453, 56-64.
26. Meechan, D.W., Maynard, T.M., Gopalakrishna, D., Wu, Y. and LaMantia, A.S. (2007) When half is not enough: Gene expression and dosage in the 22q11 deletion syndrome. Gene Expr., 13, 299-310.
27. Sivagnanasundaram, S., Fletcher, D., Hubank, M., Illingworth, E., Skuse, D. and Scambler, P. (2007) Differential gene expression in the hippocampus of the Df1/+ mice: A model for 22q11.2 deletion syndrome and schizophrenia. Brain Res., 1139, 48-59.
28. Zhang, Z. and Baldini, A. (2007) In vivo response to high-resolution variation of Tbx1 mRNA dosage. Hum. Mol. Genet., 17, 150-157.
29. Vorstman, J.A.S., Chow, E.W.C., Ophoff, R.A., Engeland, H., Beemer, F.A., Kahn, R.S., Sinke, R.J. and Bassett, A.S. (2008) Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am. J. Med. Genet. B, Published online July 21, 2008.
30. Jungerius, B.J., Hoogendoorn, M.L., Bakker, S.C., Van't Slot, R., Bardoel, A.F., Ophoff, R.A., Wijmenga, C., Kahn, R.S. and Sinke, R.J. (2007) An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia. Mol. Psychiatry, 12, 1-9.
31. Bassett, A.S., Caluseriu, O., Weksberg, R., Young, D.A. and Chow, E.W.C. (2007) Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol. Psychiatry, 61, 1135-1140.
32. Guris, D.L., Duester, G., Papaioannou, V.E. and Imamoto, A. (2006) Dose-dependent interaction of Tbx1 and Crk1 and locally aberrant RA signaling in a model of del22q11 syndrome. Dev. Cell, 10, 81-92.
33. Amati, F., Biancolella, M., Farcomeni, A., Giallonardi, S., Bueno, S., Minella, D., Vecchione, L., Chillemi, G., Desideri, A. and Novelli, G. (2007) Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development. Gene, 391, 91-102.
34. Shaw, C.J. and Lupski, J.R. (2004) Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum. Mol. Genet., 13, 57-64.
35. Babcock, M., Yatsenko, S., Stankiewicz, P., Lupski, J.R. and Morrow, B.E. (2007) AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res., 17, 451-460.
36. Carvalho, C., Pereira, H.M., Ferreira, J., Pina, C., Mendonca, D., Rosa, A.C. and Carmo-Fonseca, M. (2001) Chromosomal G-dark bands determine the spatial organization of centromeric heterochromatin in the nucleus. Mol. Biol. Cell, 12, 3563-3572.
37. Lupski, J.R., Langston, C., Friedman, R., Ledbetter, D.H. and Greenberg, F. (1991) Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2). Am. J. Med. Genet., 40 196-198.
38. Nicklas, R.B. (1997) How cells get the right chromosomes. Science, 275, 632-637.
39. Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., Fiegler, H., Shapero, M.H., Carson, A.R., Chen, W. et al. (2006) Global variation in copy number in the human genome. Nature 444, 444-454.
40. Bassett, A.S. and Chow, E.W.C. (1999) 22q11 Deletion syndrome: A genetic subtype of schizophrenia. Biol. Psychiatry, 46, 882-891.
41. Driscoll, D.A., Salvin, J., Sellinger, B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H. and Emanuel, B.S. (1993) Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J. Med. Genet., 30, 813-817.
42. Bassett, A.S., Chow, E.W.C., AbdelMalik, P., Gheorghiu, M., Husted, J. and Weksberg, R. (2003) The schizophrenia phenotype in 22q11 Deletion Syndrome. Am. J. Psychiatry, 160, 1580-1586.
43. Chow, E.W.C., Watson, M., Young, D.A. and Bassett, A.S. (2006) Neurocognitive profile in 22q11 Deletion Syndrome and schizophrenia. Schizophr. Res., 87, 270-278.
44. Moessner, R., Marshall, C.R., Sutcliffe, J., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Frenandez, B., Roberts, W., Szatmari, P. et al. (2007) Contribution of SHANK3 mutations to autism spectrum disorder. Am. J. Hum. Genet., 81, 1289-1297.
45. Consortium, T.A.G.P. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet., 39, 319-328.
46. Zhao, X., Li, C., Paez, J.G., Chin, K., Janne, P.A., Chen, T.H., Girard, L., Minna, J., Christiani, D., Leo, C. et al. (2004) An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res., 64, 3060-3071.
47. Nannya, Y., Sanada, M., Nakazaki, K., Hosoya, N., Wang, L., Hangaishi, A., Kurokawa, M., Chiba, S., Bailey, D.K., Kennedy, G.C. et al. (2005) A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res., 65, 6071-6079.
48. Komura, D., Shen, F., Ishikawa, S., Fitch, K.R., Chen, W., Zhang, J., Liu, G., Ihara, S., Nakamura, H., Hurles, M.E. et al. (2006) Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res., 16, 1575-1584.
49. Pinto, D., Marshall, C., Feuk, L. and Scherer, S.W. (2007) Copy-number variation in control population cohorts. Hum. Mol. Genet., 16 168-173.