Abstract

摘要： 儿童孤独症是发生在婴幼儿时期的由多种生物因素引起的广泛性大脑发育障碍。病因复杂,其中遗传变异起到关键作用。识别致病基因为能更清楚地认识该疾病的神经生物学基础提供了一条更合理的途径。不少学者在孤独症谱系障碍(ASD)候选基因中进行了单核苷酸多态性(SNPs)、突变、拷贝数变异(CNVs)的研究。最近研究显示,NRXN基因家族中影响突触功能的2p16.3上轴突蛋白基因(NRXN1)在ASD患儿中频繁出现,提示该基因家族功能异常对孤独症的形成具有重要意义。本文将对NRXN1基因变异在突触对神经发育性疾病中的作用的研究进展做一综述。

关键词: 孤独症谱系障碍, NRXN家族, NRXN1基因, 功能研究

CLC Number:

R749.94

刘文文综述, 杜亚松审校. NRXN1基因在儿童孤独症谱系障碍中的研究进展[J]. 中国儿童保健杂志, 2012, 20(4): 340-342.

References

[1] Missler M,Sudhof TC.Neurexins:three genes and 1001 products[J].Trends Genet,1998,14(1):20-26.
[2] Bishop Dorothy VM,Scerif G.Klinefelter syndrome as a window on the aetiology of language and communication impairments in children:the neuroligin-neurexin hypothesis[J].Acta Paediatr,2011,100(6):903-907.
[3] Frederique V,Stephane J,Nils B.Neuroligin 2 is exclusively localized to inhibitory synapses[J].Eur J Cell Biol,2004,83(9):449-456.
[4] Owens DF,Kriegstein AR.Is there more to GABA than synaptic inhibition[J].Nat Rew Neurosci,2002,3(9):715-727.
[5] Lawrence YA,Kemper TL,Bauman ML,et al.Parvalbumin-,calbindin-,and calretinin-immunoreactive hippocampal interneuron density in autism[J].Acta Neurol Scand,2010,121(2):99-108.
[6] Rubenstein JLR,Merzenich MM.Model of autism:increased ratio of excitation/inhibition in key neural systems[J].Genes Brain Behav,2003,2(5):255-267.
[7] Wisniowiecka KB,Nesteruk M,Peters SU,et al.Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder,developmental delay,and speech delay[J].Am J Med Genet Bneuropsychiatr Genet,2010,135B(5):983-993. [8] Kim HG,Kishikawa S,Higgins AW,et al.Disruption of neurexin 1associated with autism spectrum disorder[J].Am J Hum Genet,2008,82(1):199-207.
[9] Zahir FR,Baross A,Delaney AD,et al.A patient with vertebral,cognitive and behavioural abnormalities and a de novo deletion of NRXN1a[J].J Med Genet,2008,45(4):239-243.
[10] Bucan M,Abrahams BS,Wang K,et al.Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes[J].Plos Genet,2009,5(6):e1000536.
[11] Feng J,Schroer R,Yan J,et al.High frequency of neurexin 1beta signal peptide structural variants in patients with autism[J].Neurosci Lett,2006,409(1):10-13.
[12] Yan J,Noltner K,Feng J,et al.Neurexin 1alpha structural variants associated with autism[J].Neurosci Lett,2008,438(3):368-370.
[13] Wang K,Zhang H,Ma D,et al.Common genetic variants on 5p14.1 associate with autism spectrum disorders[J].Nature,2009,459(7246):528-533.
[14] Wang L,Jia M,Yue W,et al.Association of the ENGRAILED 2(EN2)gene with autism in Chinese Han population[J].Am J Med Genet B Neuropsychiatr Genet,2008,147B(4):434-438.
[15] Gauthier J,Siddiqui TJ,Huashan P,et al.Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia[J].Hum Genet,2011,130(4):563-573.
[16] Etherton MR,Blaiss CA,Powell Craig M,et al.Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments[J].Proc Natl Acad Sci USA,2009,106(42):17998-18003.
[17] Blundell J,Blaiss CA,Etherton MR,et al.Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior[J].J Neurosci,2010,30(6):2115-2129.
[18] Biswas S,Russell RJ,Jackson CJ,et al.Bridging the synaptic gap:neuroligins and neurexin I in Apis mellifera[J].Plos One,2008,3(10):e3542.
[19] Biswas S,Reinhard J,Oakeshott J,et al.Sensory regulation of neuroligins and neurexin I in the honeybee brain[J].Plos One,2010,5(2):e9133.
[20] Rubenstein JL,Merzenich MM.Model of autism:Increased ratio ofexcitation/inhibition in key neural systems[J].Genes Brain Behav,2003,2:255-267.

NRXN1基因在儿童孤独症谱系障碍中的研究进展

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