Genetic abnormalities of chromosome 22 and the development of psychosis

Current Psychiatry Reports

Volumn 6, Issue 3, 2004, Pages 176-182

  Williams, Nigel M ^a   Owen, Michael J ^b  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 22Q; CLINICAL FEATURE; CONGENITAL DISORDER; FACE DYSMORPHIA; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE NUMBER; GENETIC PROCEDURES; GENETIC RISK; GENETIC SUSCEPTIBILITY; HAPLOIDY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MOUSE; NONHUMAN; PATHOGENESIS; PSYCHOSIS; REVIEW; SCHIZOPHRENIA;

EID: 3142767559     PISSN: 15233812     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11920-004-0062-4     Document Type: Review

References (73)

1. Driscoll DA, Spinner NB, Budarf ML, et al.: Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 1992, 44:261-268.
2. Scambler PJ: The 22q11 deletion syndromes. Hum Mol Genet 2000, 9:2421-2426.
3. Shprintzen RJ, Goldberg RB, Lewin ML, et al.: A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978, 15:56-62.
4. Lindsay EA, Vitelli F, Su H, et al.: Tbx1 haploinsufficiency in the digeorge syndrome region causes aortic arch defects in mice. Nature 2001, 410:97-101.
5. Gerdes M, Solot C, Wang PP, et al.: Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 1999, 85:127-133.
6. Golding-Kushner KJ, Weller G, Shprintzen RJ: Velo-cardiofacial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol 1985, 5:259-266.
7. Papolos DF, Faedda GL, Veit S, et al.: Bipolar spectrum disorders in patients diagnosed with velo-cardiofacial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 1996, 153:1541-1547.
8. Swillen A, Devriendt K, Legius E, et al.: Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with vcfs. J Med Genet 1997, 34:453-458.
9. Jacquet H, Raux G, Thibaut E et al.: Prodh mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 2002, 11:2243-2249.
10. Driscoll DA, Budarf ML, Emanuel BS: A genetic etiology for digeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992, 50:924-933.
11. Yagi H, Furutani Y, Hamada H, et al.: Role of tbx1 in human del22q11.2 syndrome. Lancet 2003, 362:1366-1373.
12. Shaikh TH, Kurahashi H, Saitta SC, 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.
13. Dunham I, Shimizu N, Roe BA, et al.: The DNA sequence of human chromosome 22. Nature 1999, 402:489-495.
14. Budarf ML, Collins J, Gong W, et al.: Cloning a balanced translocation associated with digeorge syndrome and identification of a disrupted candidate gene. Nat Genet 1995, 10:269-278.
15. Edelmann L, Pandita RK, Spiteri E, et al.: A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999, 8:1157-1167.
16. Ensenauer RE, Adeyinka A, Flynn HC, et al.: Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003, 73:1027-1040.
17. Feinstein C, Eliez S, Blasey C, et al.: Psychiatric disorders and behavioral problems in children with velo-cardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry 2002, 51:312-318.
18. Graf WD, Unis AS, Yates CM, et al.: Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity comt polymorphism. Neurology 2001, 57:410-416.
19. Murphy KC, Jones LA, Owen MJ: High rates of schizophrenia in adults with velo-cardiofacial syndrome. Arch Gen Psychiatry 1999, 56:940-945.
20. Pulver AE, Nestadt G, Goldberg R, et al.: Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 1994, 182:476-478.
21. Shprintzen RJ, Goldberg R, Golding-Kushner KJ et al.: Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 1992, 42:141-142.
22. Bassett AS, Hodgkinson K, Chow EW, et al.: 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet 1998, 81:328-337.
23. Fraser W, Nolan M: Psychiatric disorders in mental retardation. In Mental Health in Mental Retardation. Edited by Bouras N. Cambridge: Cambridge University Press; 1994:79-92.
24. Chow LY, Merce GB, Wing YK, et al.: Schizophrenia and deletion at 22q11 in Hong Kong Chinese. Am J Med Genet 1997, 74:677-677.
25. Arinami T, Ohtsuki T, Takase K, et al.: Screening for 22q11 deletions in a schizophrenia population. Schizophr Res 2001, 52:167-170.
26. Ivanov D, Kirov G, Norton N, et al.: Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: molecular genetic study. Br J Psychiatry 2003, 183:409-413.
27. Gothelf D, Frisch A, Munitz H, et al.: Velocardiofacial manifestations and microdeletions in schizophrenic inpatients. Am J Med Genet 1997, 72:455-461.
28. Karayiorgou M, Morris MA, Morrow B, et al.: Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A 1995, 92:7612-7616.
29. Pulver AE, Karayiorgou M, Wolyniec PS, et al.: Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1. Part 1. Am J Med Genet 1994, 54:36-43.
30. Group SCL: Additional support for schizophrenia linkage on chromosomes 6 and 8: a multicenter study: schizophrenia linkage collaborative group for chromosomes 3, 6 and 8. Am J Med Genet 1996, 67:580-594.
31. DeLisi LE, Shaw SH, Crow TL et al.: A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. Am J Psychiatry 2002, 159:803-812.
32. Williams NM, Norton N, Williams H, et al.: A systematic genome-wide linkage study in 353 sib pairs with schizophrenia. Am J Hum Genet 2003, 73:1355-1367.
33. Shaw SH, Kelly M, Smith AB, et al.: A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet 1998, 81:364-376.
34. Lasseter VK, Pulver AE, Wolyniec PS, et al.: Follow-up report of potential linkage for schizophrenia on chromosome 22q: part 3. Am J Med Genet 1995, 60:172-173.
35. Blouin JL, Dombroski BA, Nath SK, et al.: Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 1998, 20:70-73.
36. Lewis CM, Levinson DF, Wise LH, et al.: Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: schizophrenia. Am J Hum Genet 2003, 73:34-48.
37. Badner JA, Gershon ES: Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 2002, 7:405-411.
38. Williams NM, Spurlock G, Norton N, et al.: Mutation screening and Id mapping in the vcfs deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Mol Psychiatry 2002, 7:1092-1100.
39. Li T, Ball D, Zhao J, et al.: Family-based linkage disequilibrium mapping using SNP marker haplotypes: application to a potential locus for schizophrenia at chromosome 22q11. Mol Psychiatry 2000, 5:77-84.
40. Liu H, Heath SC, Sobin C, et al.: Genetic variation at the 22q11 prodh2/dgcr6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc Natl Acad Sci U S A 2002, 99:3717-3722.
41. Liu H, Abecasis GR, Heath SC, et al.: Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Proc Natl Acad Sci U S A 2002, 99:16859-16864.
42. Lund J, Chen F, Hua A, et al.: Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velo-cardiofacial syndrome region on chromosome 22q11.2. Genomics 2000, 63:374-383.
43. Lund J, Roe B, Chen F, et al.: Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velo-cardiofacial syndrome region on 22q11.2. Mamm Genome 1999, 10:438-443.
44. Puech A, Saint-Jore B, Funke B, et al.: Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc Natl Acad Sci U S A 1997, 94:14608-14613.
45. Lindsay EA, Botta A, Jurecic V, et al.: Congenital heart disease in mice deficient for the digeorge syndrome region. Nature 1999, 401:379-383.
46. Paylor R, McIlwain KL, McAninch R, et al.: Mice deleted for the digeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Hum Mol Genet 2001, 10:2645-2650.
47. Lindsay EA: Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet 2001, 2:858-868.
48. Packham EA, Brook JD: T-box genes in human disorders. Hum Mol Genet 2003, 12:R37-R44.
49. Maynard TM, Haskell GT, Peters AZ, et al.: A comprehensive analysis of 22q11 gene expression in the developing and adult brain. Proc Natl Acad Sci U S A 2003, 100:14433-14438.
50. Takahashi S, Cui YH, Kojima T, et al.: Family-based association study of markers on chromosome 22 in schizophrenia using African American, European American, and Chinese families. Am J Med Genet 2003, 120B:11-17.
51. De Luca A, Conti E, Grifone N, et al.: Association study between cag trinucleotide repeats in the pcqap gene (pc2 glutamine/q-rich-associated protein) and schizophrenia. Am J Med Genet 2003, 116B:32-35.
52. Takase K, Ohtsuki T, Migita O, et al.: Association of znf74 gene genotypes with age-at-onset of schizophrenia. Schizophr Res 2001, 52:161-165.
53. De Luca A, Pasini A, Amati F, et al.: Association study of a promoter polymorphism of ufd1l gene with schizophrenia. Am J Med Genet 2001, 105:529-533.
54. Joober R, Benkelfat C, Brisebois K, et al.: Lack of association between the hskca3 channel gene cag polymorphism and schizophrenia. Am J Med Genet 1999, 88:154-157.
55. Jeffery DR, Roth JA: Characterization of membrane-bound and soluble catechol-o- methyltransferase from human frontal cortex. J Neurochem 1984, 42:826-832.
56. Grossman MH, Creveling CR, Rybczynski P, et al.: Soluble and particulate forms of rat catechol-o-methyltransferase distinguished by gel electrophoresis and immune fixation. J Neurochem 1985, 44:421-432.
57. Tenhunen J, Salminen M, Lundstrom K, et al.: Genomic organization of the human catechol o-methyltransferase gene and its expression from two distinct promoters. Eur J Biochem 1994, 223:1049-1059.
58. Lachman HM, Papolos DF, Saito T, et al.: Human catechol-o-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996, 6:243-250.
59. Lotta T, Vidgren J, Tilgmann C, et al.: Kinetics of human soluble and membrane-bound catechol o- methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry 1995, 34:4202-4210.
60. Daniels JK, Williams NM, Williams J, et al.: No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol o-methyltransferase activity. Am J Psychiatry 1996, 153:268-270.
61. Liou YJ, Tsai SJ, Hong CJ, et al.: Association analysis of a functional catechol-o-methyltransferase gene polymorphism in schizophrenic patients in Taiwan. Neuropsychobiology 2001, 43:11-14.
62. Ohmori O, Shinkai T, Kojima H, et al.: Association study of a functional catechol-o-methyltransferase gene polymorphism in Japanese schizophrenics. Neurosci Lett 1998, 243:109-112.
63. 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.
64. Kunugi H, Vallada HP, Sham PC, et al.: Catechol-o-methyltransferase polymorphisms and schizophrenia: a transmission disequilibrium study in multiply affected families. Psychiatr Genet 1997, 7:97-101.
65. Egan MF, Goldberg TE, Kolachana BS, et al.: Effect of comt val108/158 met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci U S A 2001, 98:6917-6922.
66. Li T, Sham PC, Vallada H, et al.: Preferential transmission of the high activity allele of comt in schizophrenia. Psychiatr Genet 1996, 6:131-133.
67. Malhotra AK, Kestler LJ, Mazzanti C, et al.: A functional polymorphism in the court gene and performance on a test of prefrontal cognition. Am J Psychiatry 2002, 159:652-654.
68. Shifman S, Bronstein M, Sternfeld M, et al.: A highly significant association between a comt haplotype and schizophrenia. Am J Hum Genet 2002, 71:1296-1302.
69. Bray NJ, Buckland PR, Williams NM, et al.: A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in the human brain. Am J Hum Genet 2003, 73:152-161.
70. Gogos JA, Santha M, Takacs Z, et al.: The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nat Genet 1999, 21:434-439.
71. Fan JB, Ma J, Zhang CS, et al.: A family-based association study of t1945c polymorphism in the proline dehydrogenase gene and schizophrenia in the Chinese population. Neurosci Lett 2003, 338:252-254.
72. Williams HJ, Williams N, Spurlock G, et al.: Association between prodh and schizophrenia is not confirmed. Mol Psychiatry 2003, 8:644-645.
73. Williams HJ, Williams N, Spurlock G, et al.: Detailed analysis of prodh and psprodh reveals no association with schizophrenia. Am J Med Genet 2003, 120B:42-46.