CNTNAP2基因在孤独症发病机制中的作用

杨曹骅 综述, 杜亚松 审校

中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (4) : 351-353.

PDF(489 KB)
PDF(489 KB)
中国儿童保健杂志 ›› 2012, Vol. 20 ›› Issue (4) : 351-353.
综述与讲座

CNTNAP2基因在孤独症发病机制中的作用

  • 杨曹骅 综述, 杜亚松 审校
作者信息 +
文章历史 +

摘要

儿童孤独症目前病因未明,且在国内外发病率呈上升趋势,目前病因学的研究热点主要集中遗传学方面。CNTNAP2(CONTACTIN-ASSOCIATED PROTEIN-LIKE 2)基因位于7q,处于全基因组扫描所发现的与孤独症关系紧密的区域,所以在近年来获得了极大的关注,而且取得了不少的突破,例如发现CNTNAP2基因的突变,单核苷酸多态性(SNP),拷贝数变异等均与孤独症发病的易感性有关。对孤独症患者的影像学检查也可以部分由CNTNAP2基因的变异所解释。最近所建立CNTNAP2基因敲除小鼠,从动物模型角度更有力的支持CNTNAP2基因对于孤独症发病的重要作用。

关键词

儿童孤独症 / CNTNAP2基因 / 单核苷酸多态性 / 动物模型 / fMRI

引用本文

导出引用
杨曹骅 综述, 杜亚松 审校. CNTNAP2基因在孤独症发病机制中的作用[J]. 中国儿童保健杂志. 2012, 20(4): 351-353
中图分类号: R749.94   

参考文献

[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.

基金

国家基础973项目(2010CB529602)

PDF(489 KB)

Accesses

Citation

Detail

段落导航
相关文章

/