CNTNAP2基因在孤独症发病机制中的作用

Chinese Journal of Child Health Care ›› 2012, Vol. 20 ›› Issue (4) : 351-353.

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PDF(489 KB)
Chinese Journal of Child Health Care ›› 2012, Vol. 20 ›› Issue (4) : 351-353.

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[1] Rutter M,Bishop DVM,Pine DS,et al.Front Matter,in Rutter's child and adolescent psychiatry[M].Fifth Edition.Blackwell Publishing Ltd,Oxford,UK,2009.
[2] Rice C.Prevalence of autism spectrum disorders - autism and developmental disabilities monitoring network,United States,2006[J].MMWR Surveill Summ,2009,58:1-20.
[3] 徐翠青,张建端,张静,等.儿童孤独症危险因素分析[J].中国妇幼保健,2005,20(8):982-983.
[4] IMGSAC(International Molecular Genetic Study of Autism Consortium).A full genome screen for autism with evidence for linkage to a region on chromosome 7q.Hum.Mol[J].Genet,1998,7:571-578.
[5] Alarcón M,Abrahams BS,Stone JL,et al.Linkage,association,and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene[J].Am J Hum Genet,2008,82(1):150-159.
[6] Arking DE,Cutler DJ,Brune CW,et al.A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism[J].Am J Hum Genet,2008,82(1):160-164.
[7] Bakkaloglu B,O'Roak BJ,Louvi A,et al.Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders[J].Am J Hum Genet,2008,82(1):165-173.
[8] O'Roak BJ,Deriziotis P,Lee C,et al.Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations[J].Nat Genet,2011,43(6):585-589.
[9] Whitehouse AJ,Bishop DV,Ang QW,et al.CNTNAP2 variants affect early language development in the general population[J].Genes Brain Behav,2011,10(4):451-456.
[10] Abrahams BS,Tentler D,Perederiy,et al.enome-wide analyses of human perisylvian cerebral cortical patterning[J].Proc Nat Acad Sci,2007,104:17849-17854. [11] Strauss KA,Puffenberger EG,Huentelman,et al.Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like[J].N Engl J Med,2006,354:1370-1377.
[12] Li X,Hu Z,He Y,et al.Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population[J].Psychiatr Genet,2010,20(3):113-117.
[13] Pe agarikano O,Abrahams BS,Herman EI,et al.Absence of CNTNAP2 leads to epilepsy,neuronal migration abnormalities,and core autism-related deficits[J].Cell,2011,147(1):235-246.
[14] Tan GC,Doke TF,Ashburner J,et al.Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2[J].Neuroimage,2010,53(3):1030-1042.
[15] Scott-Van Zeeland AA,Abrahams BS,Alvarez-Retuerto AI,et al.Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2[J].Sci Transl Med,2010,56(2):56-80.
[16] Whalley HC,O'Connell G,Sussmann JE,et al.Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals[J].Am J Med Genet B Neuropsychiatr Genet,2011,156B(8):941-948.
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