메뉴 건너뛰기




Volumn 26, Issue 2, 2016, Pages 60-65

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation

Author keywords

Gene; Loss of function; Missense; Mutation; Nonsense; Schizophrenia

Indexed keywords

MESSENGER RNA; SODIUM CHANNEL NAV1.2; SCN2A PROTEIN, HUMAN;

EID: 84960113636     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0000000000000110     Document Type: Article
Times cited : (41)

References (54)
  • 3
    • 84878799611 scopus 로고    scopus 로고
    • Predicting functional effect of human missense mutations using PolyPhen-2
    • Adzhubei I, Jordan DM, Sunyaev SR (2013). Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 7:20.
    • (2013) Curr Protoc Hum Genet , vol.7 , pp. 20
    • Adzhubei, I.1    Jordan, D.M.2    Sunyaev, S.R.3
  • 10
    • 84879503677 scopus 로고    scopus 로고
    • Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis
    • Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C, et al. (2013). Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. Hum Genet 132:825-841.
    • (2013) Hum Genet , vol.132 , pp. 825-841
    • Classen, C.F.1    Riehmer, V.2    Landwehr, C.3    Kosfeld, A.4    Heilmann, S.5    Scholz, C.6
  • 11
    • 84929171275 scopus 로고    scopus 로고
    • Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
    • Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, et al. (2015). Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. Mol Autism 6:21.
    • (2015) Mol Autism , vol.6 , pp. 21
    • Codina-Solà, M.1    Rodríguez-Santiago, B.2    Homs, A.3    Santoyo, J.4    Rigau, M.5    Aznar-Laín, G.6
  • 13
    • 84884534186 scopus 로고    scopus 로고
    • Detection of clinically relevant copy number variants with wholeexome sequencing
    • De Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, et al. (2013). Detection of clinically relevant copy number variants with wholeexome sequencing. Hum Mutat 34:1439-1448.
    • (2013) Hum Mutat , vol.34 , pp. 1439-1448
    • De Ligt, J.1    Boone, P.M.2    Pfundt, R.3    Vissers, L.E.4    Richmond, T.5    Geoghegan, J.6
  • 16
    • 84926476219 scopus 로고    scopus 로고
    • Cambridge, MA, Accessed July 1st 2015
    • Exome Aggregation Consortium (ExAC) (2014). Cambridge, MA. Available at: http://exac.broadinstitute.org. [Accessed July 1st 2015].
    • (2014) Exome Aggregation Consortium (ExAC)
  • 22
    • 69949177829 scopus 로고    scopus 로고
    • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
    • Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, et al. (2009). Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 66:947-956.
    • (2009) Arch Gen Psychiatry , vol.66 , pp. 947-956
    • Guilmatre, A.1    Dubourg, C.2    Mosca, A.L.3    Legallic, S.4    Goldenberg, A.5    Drouin-Garraud, V.6
  • 23
    • 84878220679 scopus 로고    scopus 로고
    • Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC
    • Hamshere ML, Walters JT, Smith R, Richards AL, Green E, Grozeva D, et al. (2013). Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Mol Psychiatry 18:708-712.
    • (2013) Mol Psychiatry , vol.18 , pp. 708-712
    • Hamshere, M.L.1    Walters, J.T.2    Smith, R.3    Richards, A.L.4    Green, E.5    Grozeva, D.6
  • 25
    • 12144286141 scopus 로고    scopus 로고
    • A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline
    • Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, et al. (2004). A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 24:2690-2698.
    • (2004) J Neurosci , vol.24 , pp. 2690-2698
    • Kamiya, K.1    Kaneda, M.2    Sugawara, T.3    Mazaki, E.4    Okamura, N.5    Montal, M.6
  • 27
    • 64549147485 scopus 로고    scopus 로고
    • Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
    • Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, Holmans P, et al. (2009). Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 18:1497-1503.
    • (2009) Hum Mol Genet , vol.18 , pp. 1497-1503
    • Kirov, G.1    Grozeva, D.2    Norton, N.3    Ivanov, D.4    Mantripragada, K.K.5    Holmans, P.6
  • 28
    • 84856225986 scopus 로고    scopus 로고
    • De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
    • Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, et al. (2012). De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry 17:142-153.
    • (2012) Mol Psychiatry , vol.17 , pp. 142-153
    • Kirov, G.1    Pocklington, A.J.2    Holmans, P.3    Ivanov, D.4    Ikeda, M.5    Ruderfer, D.6
  • 29
    • 34447321852 scopus 로고    scopus 로고
    • Enhancements and modifications of primer design program Primer3
    • Koressaar T, Remm M (2007). Enhancements and modifications of primer design program Primer3. Bioinformatics 23:1289-1291.
    • (2007) Bioinformatics , vol.23 , pp. 1289-1291
    • Koressaar, T.1    Remm, M.2
  • 30
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC (2009). Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 31
    • 84929104082 scopus 로고    scopus 로고
    • Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy
    • Kwong AK, Ho AC, Fung CW, Wong VC (2015). Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PLoS One 10:e0126446.
    • (2015) PLoS One , vol.10 , pp. e0126446
    • Kwong, A.K.1    Ho, A.C.2    Fung, C.W.3    Wong, V.C.4
  • 32
    • 84883465830 scopus 로고    scopus 로고
    • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
    • Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, et al. (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 45:984-994.
    • (2013) Nat Genet , vol.45 , pp. 984-994
    • Lee, S.H.1    Ripke, S.2    Neale, B.M.3    Faraone, S.V.4    Purcell, S.M.5    Perlis, R.H.6
  • 33
    • 84955208220 scopus 로고    scopus 로고
    • Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
    • Epub ahead of print
    • Li J, Cai T, Jiang Y, Chen H, He X, Chen C, et al. (2015). Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Mol Psychiatry [Epub ahead of print].
    • (2015) Mol Psychiatry
    • Li, J.1    Cai, T.2    Jiang, Y.3    Chen, H.4    He, X.5    Chen, C.6
  • 34
    • 77951889844 scopus 로고    scopus 로고
    • Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
    • Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, et al. (2010). Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 133(Pt 5):1403-1414.
    • (2010) Brain , vol.133 , pp. 1403-1414
    • Liao, Y.1    Deprez, L.2    Maljevic, S.3    Pitsch, J.4    Claes, L.5    Hristova, D.6
  • 35
    • 84872722295 scopus 로고    scopus 로고
    • Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders
    • Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, et al. (2013). Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 77:235-242.
    • (2013) Neuron , vol.77 , pp. 235-242
    • Lim, E.T.1    Raychaudhuri, S.2    Sanders, S.J.3    Stevens, C.4    Sabo, A.5    MacArthur, D.G.6
  • 36
    • 84900557599 scopus 로고    scopus 로고
    • Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
    • Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, et al. (2014). Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet 23:3200-3211.
    • (2014) Hum Mol Genet , vol.23 , pp. 3200-3211
    • Martin, H.C.1    Kim, G.E.2    Pagnamenta, A.T.3    Murakami, Y.4    Carvill, G.L.5    Meyer, E.6
  • 37
    • 77954514571 scopus 로고    scopus 로고
    • Sodium channel gene family: Epilepsy mutations, gene interactions and modifier effects
    • Meisler MH, O'Brien JE, Sharkey LM (2010). Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol 588(Pt 11):1841-1848.
    • (2010) J Physiol , vol.588 , pp. 1841-1848
    • Meisler, M.H.1    O'Brien, J.E.2    Sharkey, L.M.3
  • 38
    • 50449100461 scopus 로고    scopus 로고
    • Identification of loci associated with schizophrenia by genome-wide association and follow-up
    • O'Donovan MC, Craddock N, Norton N, Williams H, Peirce T, Moskvina V, et al. (2008). Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 40:1053-1055.
    • (2008) Nat Genet , vol.40 , pp. 1053-1055
    • O'Donovan, M.C.1    Craddock, N.2    Norton, N.3    Williams, H.4    Peirce, T.5    Moskvina, V.6
  • 39
    • 84866657557 scopus 로고    scopus 로고
    • Implications of genetic findings for understanding schizophrenia
    • Owen MJ (2012). Implications of genetic findings for understanding schizophrenia. Schizophr Bull 38:904-907.
    • (2012) Schizophr Bull , vol.38 , pp. 904-907
    • Owen, M.J.1
  • 43
    • 84868543309 scopus 로고    scopus 로고
    • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
    • Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380:1674-1682.
    • (2012) Lancet , vol.380 , pp. 1674-1682
    • Rauch, A.1    Wieczorek, D.2    Graf, E.3    Wieland, T.4    Endele, S.5    Schwarzmayr, T.6
  • 44
  • 45
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, et al. (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70:863-885.
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3    Luo, R.4    Murtha, M.T.5    Moreno-De-Luca, D.6
  • 46
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485:237-241.
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1    Murtha, M.T.2    Gupta, A.R.3    Murdoch, J.D.4    Raubeson, M.J.5    Willsey, A.J.6
  • 47
    • 84904804929 scopus 로고    scopus 로고
    • Biological insights from 108 schizophrenia-associated genetic loci
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium, 2014. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511:421-427.
    • (2014) Nature , vol.511 , pp. 421-427
  • 48
    • 0032876978 scopus 로고    scopus 로고
    • DbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation
    • Sherry ST, Ward M, Sirotkin K (1999). dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res 9:677-679.
    • (1999) Genome Res , vol.9 , pp. 677-679
    • Sherry, S.T.1    Ward, M.2    Sirotkin, K.3
  • 50
    • 84866616686 scopus 로고    scopus 로고
    • Genome-wide association study implicates HLA-C 01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia
    • Strange A, Riley BP, Spencer C C A, Morris DW, Brinen M, O'Dushlaine CT, et al. (2012). Genome-wide association study implicates HLA-C 01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia. Biol Psychiatry 72:620-628.
    • (2012) Biol Psychiatry , vol.72 , pp. 620-628
    • Strange, A.1    Riley, B.P.2    Spencer, C.C.A.3    Morris, D.W.4    Brinen, M.5    O'Dushlaine, C.T.6
  • 52
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, et al. (2012). Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337:64-69.
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3    Fu, W.4    Kenny, E.E.5    Gravel, S.6
  • 53
    • 77949480756 scopus 로고    scopus 로고
    • Genomic features defining exonic variants that modulate splicing
    • Woolfe A, Mullikin JC, Elnitski L (2010). Genomic features defining exonic variants that modulate splicing. Genome Biol 11:R20.
    • (2010) Genome Biol , vol.11 , pp. R20
    • Woolfe, A.1    Mullikin, J.C.2    Elnitski, L.3
  • 54
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histone-modifying genes in congenital heart disease
    • Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, et al. (2013). De novo mutations in histone-modifying genes in congenital heart disease. Nature 498:220-223.
    • (2013) Nature , vol.498 , pp. 220-223
    • Zaidi, S.1    Choi, M.2    Wakimoto, H.3    Ma, L.4    Jiang, J.5    Overton, J.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.