메뉴 건너뛰기




Volumn 4, Issue 3, 2011, Pages 228-233

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD)

Author keywords

ACSL4; Autism spectrum disorders; DLG3; Gene; IL1RAPL2; Linkage; RPS6KA6; Single nucleotide polymorphism; XLMR; ZNF711

Indexed keywords

ACYL COENZYME A SYNTHETASE LONG CHAIN FAMILY MEMBER 4; ASPARAGINE; ASPARTIC ACID; DLG3 PROTEIN; DNA; INTERLEUKIN 1 RECEPTOR ACCESSORY LIKE PROTEIN 2; MESSENGER RNA; PROTEIN; S6 KINASE; UNCLASSIFIED DRUG; ZNF711 PROTEIN;

EID: 79958169719     PISSN: 19393792     EISSN: 19393806     Source Type: Journal    
DOI: 10.1002/aur.187     Document Type: Article
Times cited : (13)

References (43)
  • 1
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis, G.R., Cherny, S.S., Cookson, W.O., & Cardon, L.R. ( 2002). Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nature Genetics, 30, 97-101.
    • (2002) Nature Genetics , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 2
    • 0036780698 scopus 로고    scopus 로고
    • A genome-wide screen for autism-spectrum disorders: Evidence for a major susceptibility locus on chromosome 3q25-27
    • Auranen, M., Vanhala, R., Varilo, T., Ayers, K., Kempas, E., et al. ( 2002). A genome-wide screen for autism-spectrum disorders: Evidence for a major susceptibility locus on chromosome 3q25-27. American Journal of Human Genetics, 71, 777-790.
    • (2002) American Journal of Human Genetics , vol.71 , pp. 777-790
    • Auranen, M.1    Vanhala, R.2    Varilo, T.3    Ayers, K.4    Kempas, E.5
  • 3
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Autism Genome Project Consortium
    • Autism Genome Project Consortium, Szatmari, P., Paterson, A.D., Zwaigenbaum, L., Roberts, W., et al. ( 2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39, 319-328.
    • (2007) Nature Genetics , vol.39 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3    Roberts, W.4
  • 5
    • 37249045889 scopus 로고    scopus 로고
    • Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
    • Bhat, S.S., Ladd, S., Grass, F., Spence, J.E., Brasington, C.K., et al. ( 2008). Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. Clinical Genetics, 73, 94-96.
    • (2008) Clinical Genetics , vol.73 , pp. 94-96
    • Bhat, S.S.1    Ladd, S.2    Grass, F.3    Spence, J.E.4    Brasington, C.K.5
  • 7
    • 44349186162 scopus 로고    scopus 로고
    • Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
    • Christian, S.L., Brune, C.W., Sudi, J., Kumar, R.A., Liu, S., et al. ( 2008). Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry, 63, 1111-1117.
    • (2008) Biological Psychiatry , vol.63 , pp. 1111-1117
    • Christian, S.L.1    Brune, C.W.2    Sudi, J.3    Kumar, R.A.4    Liu, S.5
  • 8
    • 0029980748 scopus 로고    scopus 로고
    • Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands
    • Colleaux, L., May, M., Belougne, J., Lepaslier, D., Schwartz, C., & Fontes, M. ( 1996). Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands. Journal of Medical Genetics, 33, 353-357.
    • (1996) Journal of Medical Genetics , vol.33 , pp. 353-357
    • Colleaux, L.1    May, M.2    Belougne, J.3    Lepaslier, D.4    Schwartz, C.5    Fontes, M.6
  • 9
    • 17144370207 scopus 로고    scopus 로고
    • Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types
    • Dümmler, B.A., Hauge, C., Silber, J., Yntema, H.G., Kruse, L.S., et al. ( 2005). Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types. Journal of Biological Chemistry, 280, 13304-13314.
    • (2005) Journal of Biological Chemistry , vol.280 , pp. 13304-13314
    • Dümmler, B.A.1    Hauge, C.2    Silber, J.3    Yntema, H.G.4    Kruse, L.S.5
  • 10
    • 0035913720 scopus 로고    scopus 로고
    • IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system
    • Ferrante, M.I., Ghiani, M., Bulfone, A., & Franco, B. ( 2001). IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Gene, 275, 217-221.
    • (2001) Gene , vol.275 , pp. 217-221
    • Ferrante, M.I.1    Ghiani, M.2    Bulfone, A.3    Franco, B.4
  • 11
    • 67649921127 scopus 로고    scopus 로고
    • The genetic landscape of intellectual disability arising from chromosome X
    • Gécz, J., Shoubridge, C., & Corbett, M. ( 2009). The genetic landscape of intellectual disability arising from chromosome X. Trends in Genetics, 25, 308-316.
    • (2009) Trends in Genetics , vol.25 , pp. 308-316
    • Gécz, J.1    Shoubridge, C.2    Corbett, M.3
  • 12
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner, J.T., Wang, K., Cai, G., Korvatska, O., Kim, C.E., et al. ( 2009). Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature, 459, 569-573.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3    Korvatska, O.4    Kim, C.E.5
  • 13
    • 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, A.L., Legallic, S., Goldenberg, A., et al. ( 2009). Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Archives of General Psychiatry, 66, 947-956.
    • (2009) Archives of General Psychiatry , vol.66 , pp. 947-956
    • Guilmatre, A.1    Dubourg, C.2    Mosca, A.L.3    Legallic, S.4    Goldenberg, A.5
  • 16
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., et al. ( 2003). Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics, 34, 27-29.
    • (2003) Nature Genetics , vol.34 , pp. 27-29
    • Jamain, S.1    Quach, H.2    Betancur, C.3    Rastam, M.4    Colineaux, C.5
  • 17
    • 0034102258 scopus 로고    scopus 로고
    • Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation
    • Jin, H., Gardner, R.J., Viswesvaraiah, R., Muntoni, F., & Roberts, R.G. ( 2000). Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. European Journal of Human Genetics, 8, 87-94.
    • (2000) European Journal of Human Genetics , vol.8 , pp. 87-94
    • Jin, H.1    Gardner, R.J.2    Viswesvaraiah, R.3    Muntoni, F.4    Roberts, R.G.5
  • 18
    • 34547902701 scopus 로고    scopus 로고
    • X-linked mental retardation: Further lumping, splitting and emerging phenotypes
    • Kleefstra, T., & Hamel, B.C. ( 2005). X-linked mental retardation: Further lumping, splitting and emerging phenotypes. Clinical Genetics, 69, 197.
    • (2005) Clinical Genetics , vol.69 , pp. 197
    • Kleefstra, T.1    Hamel, B.C.2
  • 19
    • 12144291350 scopus 로고    scopus 로고
    • X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    • Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., et al. ( 2004). X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. American Journal of Human Genetics, 74, 552-557.
    • (2004) American Journal of Human Genetics , vol.74 , pp. 552-557
    • Laumonnier, F.1    Bonnet-Brilhault, F.2    Gomot, M.3    Blanc, R.4    David, A.5
  • 22
    • 33645798271 scopus 로고    scopus 로고
    • Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH
    • Lugtenberg, D., de Brouwer, A.P.M., Kleefstra, T., Oudakker, A.R., Frints, S.G.M., et al. ( 2006). Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH. Journal of Medical Genetics, 43, 362-370.
    • (2006) Journal of Medical Genetics , vol.43 , pp. 362-370
    • Lugtenberg, D.1    de Brouwer, A.P.M.2    Kleefstra, T.3    Oudakker, A.R.4    Frints, S.G.M.5
  • 23
    • 41449113254 scopus 로고    scopus 로고
    • X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
    • Madrigal, I., Rodriuquez-Revenga, L., Armengol, L., Gonzales, E., Rodriquez, B., et al. ( 2007). X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics, 8, 443.
    • (2007) BMC Genomics , vol.8 , pp. 443
    • Madrigal, I.1    Rodriuquez-Revenga, L.2    Armengol, L.3    Gonzales, E.4    Rodriquez, B.5
  • 25
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • O'Connell, J.R., & Weeks, D.E. ( 1998). PedCheck: A program for identification of genotype incompatibilities in linkage analysis. American Journal of Human Genetics, 63, 259-266.
    • (1998) American Journal of Human Genetics , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 26
    • 0032945941 scopus 로고    scopus 로고
    • Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study
    • Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., et al. ( 1999). Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Human Molecular Genetics, 8, 805-812.
    • (1999) Human Molecular Genetics , vol.8 , pp. 805-812
    • Philippe, A.1    Martinez, M.2    Guilloud-Bataille, M.3    Gillberg, C.4    Rastam, M.5
  • 27
    • 57049170205 scopus 로고    scopus 로고
    • Mutations in the calcium-related gene IL1RAPL1 are associated with autism
    • Piton, A., Michaud, J.L., Peng, H., Aradhya, S., Gauthier, J., et al. ( 2008). Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human Molecular Genetics, 17, 3965-3974.
    • (2008) Human Molecular Genetics , vol.17 , pp. 3965-3974
    • Piton, A.1    Michaud, J.L.2    Peng, H.3    Aradhya, S.4    Gauthier, J.5
  • 29
  • 31
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., et al. ( 2007). Strong association of de novo copy number mutations with autism. Science, 316, 445-449.
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3    Troge, J.4    Lese-Martin, C.5
  • 33
    • 0030977686 scopus 로고    scopus 로고
    • Genetic influences in childhood-onset psychiatric disorders: Autism and attention-deficit/hyperactivity disorder
    • Smalley, S.L. ( 1997). Genetic influences in childhood-onset psychiatric disorders: Autism and attention-deficit/hyperactivity disorder. American Journal of Human Genetics, 60, 1276-1282.
    • (1997) American Journal of Human Genetics , vol.60 , pp. 1276-1282
    • Smalley, S.L.1
  • 36
    • 66749148353 scopus 로고    scopus 로고
    • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
    • Tarpey, P.S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., et al. ( 2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics, 41, 535-543.
    • (2009) Nature Genetics , vol.41 , pp. 535-543
    • Tarpey, P.S.1    Smith, R.2    Pleasance, E.3    Whibley, A.4    Edkins, S.5
  • 37
    • 0029832136 scopus 로고    scopus 로고
    • Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
    • Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., Zackai, E., et al. ( 1996). Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature, 384, 567-570.
    • (1996) Nature , vol.384 , pp. 567-570
    • Trivier, E.1    De Cesare, D.2    Jacquot, S.3    Pannetier, S.4    Zackai, E.5
  • 38
    • 20444424159 scopus 로고    scopus 로고
    • Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region
    • Vincent, J.B., Melmer, G., Bolton, P.F., Hodgkinson, S., Holmes, D., et al. ( 2005). Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region. Psychiatric Genetics, 15, 83-90.
    • (2005) Psychiatric Genetics , vol.15 , pp. 83-90
    • Vincent, J.B.1    Melmer, G.2    Bolton, P.F.3    Hodgkinson, S.4    Holmes, D.5
  • 39
    • 67349112868 scopus 로고    scopus 로고
    • Common genetic variants on 5p14.1 associate with autism spectrum disorders
    • Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J.T., et al. ( 2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature, 459, 528-533.
    • (2009) Nature , vol.459 , pp. 528-533
    • Wang, K.1    Zhang, H.2    Ma, D.3    Bucan, M.4    Glessner, J.T.5
  • 41
    • 0033572435 scopus 로고    scopus 로고
    • A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation
    • Yntema, H.G., van den Helm, B., Kissing, J., van Duijnhoven, G., Poppelaars, F., et al. ( 1999). A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics, 62, 332-343.
    • (1999) Genomics , vol.62 , pp. 332-343
    • Yntema, H.G.1    van den Helm, B.2    Kissing, J.3    van Duijnhoven, G.4    Poppelaars, F.5
  • 43
    • 77954658923 scopus 로고    scopus 로고
    • A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
    • Zanni, G., van Esch, H., Bensalem, A., Saillour, Y., Poirier, K., et al. ( 2010) A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics, 11, 251-255.
    • (2010) Neurogenetics , vol.11 , pp. 251-255
    • Zanni, G.1    van Esch, H.2    Bensalem, A.3    Saillour, Y.4    Poirier, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.