CNVs in neuropsychiatric disorders

Human Molecular Genetics

Volumn 24, Issue R1, 2015, Pages R45-R49

  Kirov, George ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AUTISM; BIPOLAR DISORDER; COGNITION; COMPARATIVE STUDY; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; GENE MUTATION; HUMAN; MENTAL DISEASE; NATURAL SELECTION; NEUROLOGIC DISEASE; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SCHIZOPHRENIA; GENETICS; GENOME-WIDE ASSOCIATION STUDY;

COGNITION; DNA COPY NUMBER VARIATIONS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MENTAL DISORDERS; NERVOUS SYSTEM DISEASES; RISK FACTORS;

EID: 84943740130     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv253     Document Type: Review

References (39)

1. Murphy, K.C., Jones, L.A. and Owen, M.J. (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch. Gen. Psychiatry, 56, 940-945.
2. Shprintzen, R.J., Goldberg, R.B., Lewin, M.L., Sidoti, E.J., Berkman, M.D., Argamaso, R.V. and Young, D. (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilites: velo-cardio-facial syndrome. Cleft Palate J., 15, 56-62.
3. Driscoll, D.A., Spinner, N.B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H., Goldberg, R.B., Shprintzen, R.J., Saal, H.M., Zonana, J., Jones, M.C. et al. (1992) Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am. J. Med. Genet., 44, 261-268.
4. Lupski, J.R. (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet., 14, 417-422.
5. Stankiewicz, P. and Lupski, J.R. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet., 18, 74-82.
6. Lupski, J.R. (2009) Genomic disorders ten years on. Genome Med., 1, 42.
7. Girirajan, S., Rosenfeld, J.A., Coe, B.P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R.A., McConnell, J.S., Angle, B., Meschino, W.S. et al. (2012) Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N. Engl. J. Med., 367, 1321-1331.
8. Girirajan, S., Dennis, M.Y., Baker, C., Malig, M., Coe, B.P., Campbell, C.D., Mark, K., Vu, T.H., Alkan, C., Cheng, Z. et al. (2013) Refinement and discovery of new hotspots of copynumber variation associated with autism spectrumdisorder. Am. J. Hum. Genet., 92, 221-237.
9. International Schizophrenia Consortium. (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455, 237-241.
10. Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, 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.
11. Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O.P., Barnes, M.R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U. and Bramon, E. (2009) Disruption of the neurexin 1 gene is associated with schizophrenia. Hum. Mol. Genet., 18, 988-996.
12. Mulle, J.G., Pulver, A.E., McGrath, J.A., Wolyniec, P.S., Dodd, A. F., Cutler, D.J., Sebat, J., Malhotra, D., Nestadt, G., Conrad, D.F. et al. (2014) Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Biol. Psychiatry, 75, 371-377.
13. Ingason, A., Kirov, G., Giegling, I., Hansen, T., Isles, A.R., Jakobsen, K.D., Kristinsson, K.T., le Roux, L., Gustafsson, O., Craddock, N. et al. (2011)Maternally derivedmicroduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am. J. Psychiatry., 168, 408-417.
14. Malhotra, D. and Sebat, J. (2012) CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell, 148, 1223-1241.
15. Levinson, D.F., Duan, J., Oh, S., Wang, K., Sanders, A.R., Shi, J., Zhang, N., Mowry, B.J., Olincy, A. and Amin, F. (2011) Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am. J. Psychiatry, 168, 302-316.
16. Rees, E., Walters, J.T., Georgieva, L., Isles, A.R., Chambert, K.D., Richards, A.L., Mahoney-Davies, G., Legge, S.E., Moran, J.L., McCarroll, S.A. et al. (2014) Analysis of copy number variations at 15 schizophrenia-associated loci. Br. J. Psychiatry, 204, 108-114.
17. Kirov, G., Rees, E., Walters, J.T., Escott-Price, V., Georgieva, L., Richards, A.L., Chambert, K.D., Davies, G., Legge, S.E., Moran, J.L. et al. (2014) The penetrance of copy number variations for schizophrenia and developmental delay. Biol. Psychiatry, 75, 378-385.
18. Green, E., Rees, E., Walters, J., Gordon-Smith, K., Forty, E., Grozeva, D., Moran, J., Sklar, P., Ripke, S., Chambert, K. et al. (2015) Copy number variation in bipolar affective disorder. Mol. Psychiatry. doi: 10.1038/mp.2014.174
19. Kaminsky, E.B., Kaul, V., Paschall, J., Church, D.M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S.T. et al. (2011) An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet. Med., 13, 777-784.
20. Mefford, H.C., Sharp, A.J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V.K., Crolla, J.A., Baralle, D. et al. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med., 359, 1685-1699.
21. Sharp, A.J., Mefford, H.C., Li, K., Baker, C., Skinner, C., Stevenson, R.E., Schroer, R.J., Novara, F., De Gregori, M., Ciccone, R. et al. (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet., 40, 322-328.
22. McCarthy, S.E., Makarov, V., Kirov, G., Addington, A.M., McClellan, J., Yoon, S., Perkins, D.O., Dickel, D.E., Kusenda, M., Krastoshevsky, O. et al. (2009) Microduplications of 16p11.2 are associated with schizophrenia. Nat. Genet., 41, 1223-1227.
23. Chen, X., Shen, Y., Zhang, F., Chiang, C., Pillalamarri, V., Blumenthal, I., Talkowski, M., Wu, B.L. and Gusella, J.F. (2013) Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am. J. Hum. Genet., 92, 375-386.
24. Grozeva, D., Kirov, G., Ivanov, D., Jones, I.R., Jones, L., Green, E. K., St Clair, D.M., Young, A.H., Ferrier, N., Farmer, A.E. et al. (2010) Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch. Gen. Psychiatry, 67, 318-327.
25. Lichtenstein, P., Yip, B.H., Björk, C., Pawitan, Y., Cannon, T.D., Sullivan, P.F. and Hultman, C.M. (2009) Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet, 373, 234-239.
26. Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., Bjornsdottir, G., Walters, G.B., Jonsdottir, G.A., Doyle, O.M. et al. (2014) CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature, 505, 361-366.
27. Heinrichs, R.W. and Zakzanis, K.K. (1998) Neurocognitive deficit in schizophrenia: a quantitative review of the evidence. Neuropsychology, 12, 426-445.
28. Mesholam-Gately, R.I., Giuliano, A.J., Goff, K.P., Faraone, S.V. and Seidman, L.J. (2009) Neurocognition in first-episode schizophrenia: a meta-analytic review. Neuropsychology. 23, 315-336.
29. Kirov, G., Pocklington, A.J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, L. et al. (2012) De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol. Psychiatry, 17, 142-153.
30. Malhotra, D., McCarthy, S., Michaelson, J.J., Vacic, V., Burdick, K.E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E.S. et al. (2011) High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron, 72, 951-963.
31. Rees, E., Moskvina, V., Owen, M.J., O'Donovan, M.C. and Kirov, G. (2011) De novo rates and selection of schizophrenia-associated copy number variants. Biol. Psychiatry, 70, 1109-1114.
32. Haukka, J., Suvisaari, J. and Lönnqvist, J. (2003) Fertility of patients with schizophrenia, their siblings, and the general population: a cohort study from 1950 to 1959 in Finland. Am. J. Psychiatry, 160, 460-463.
33. Laursen, T.M. and Munk-Olsen, T. (2010) Reproductive patterns in psychotic patients. Schizophr. Res., 121, 234-240.
34. Power, R.A., Kyaga, S., Uher, R., MacCabe, J.H., Långström, N., Landen, M., McGuffin, P., Lewis, C.M., Lichtenstein, P. and Svensson, A.C. (2013) Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings. JAMA Psychiatry, 70, 22-30.
35. Costain, G., Chow, E.W., Silversides, C.K. and Bassett, A.S. (2011) Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J. Med. Genet., 48, 819-824.
36. Gershon, E.S. and Alliey-Rodriguez, N. (2013) New ethical issues for genetic counseling in common mental disorders. Am. J. Psychiatry., 170, 968-976.
37. Vassos, E., Collier, D.A., Holden, S., Patch, C., Rujescu, D., St Clair, D. and Lewis, C.M. (2010) Penetrance for copy number variants associated with schizophrenia. Hum. Mol. Genet., 19, 3477-3481.
38. Rosenfeld, J.A., Coe, B.P., Eichler, E.E., Cuckle, H. and Shaffer, L.G. (2013) Estimates of penetrance for recurrent pathogenic copy-number variations. Genet. Med., 15, 478-481.
39. Dittwald, P., Gambin, T., Szafranski, P., Li, J., Amato, S., Divon, M.Y., Rodríguez Rojas, L.X., Elton, L.E., Scott, D.A., Schaaf, C.P. et al. (2013) NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res., 23, 1395-1409.