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常染色体非特异性精神发育迟滞相关基因研究进展

Progresses on autosomal recessive nonsyndromic mental retardation related genes
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摘要 常染色体上一些基因与神经系统的发育和功能密切相关,突变后可导致非特异性精神发育迟滞。文章从基因定位、表达、生物学功能与突变后致病机理等方面,对常染色体非特异性精神发育迟滞相关基因的研究现状进行了综述,并展望了今后这一领域的研究前景。 Some autosomal genes are associated with development and function of nervous system. Mutations of these genes can lead to nonsyndromic mental retardation. This paper reviews recent progresses on autosomal recessive nonsyndromic mental retardation related genes, including localization, expression, biological function and pathogenesis after mutations. The prospect in this field is also discussed.
作者 石张燕 张富昌 高晓彩
机构地区 西北大学生命科学学院人口与健康研究所
出处 《遗传》 CAS CSCD 北大核心 2010年第2期135-140,共6页 Hereditas（Beijing)
基金 国家重点基础研究发展规划(973计划)前期专项(编号:2007CB516702) 陕西省"十一五"科技计划项目(编号:2007K01-25)资助
关键词 非特异性精神发育迟滞 基因 常染色体 nonsyndromic mental retardation gene autosomal
分类号 R749.94 [医药卫生—神经病学与精神病学]
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  • 1Frints SGM, Froyen G, Marynen P, Fryns J-P. X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms. Clin Genet, 2002, 62(6): 423-432.
  • 2Gecz J, Mulley J. Genes for cognitive functfon: Developments on the X. Genome Res, 2000,10(2): 157-163.
  • 3Basel-Vanagaite L. Genetics of autosomal recessive non-syndromic mental retardation: Recent advances. Clin Genet, 2007, 72(3): 167-174.
  • 4Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Auge J, Bacq D, Briault S, Vekemans M, Munnich A, Attie-Bitach T, Sonderegger P, Colleaux L. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science, 2002, 298(5599): 1779-1781.
  • 5Higgins JJ, Pucilowska J, Lombardi RQ, Rooney JE A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology, 2004, 63(10): 1927-1931.
  • 6Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive nonsyndromic mental retardation. J Med Genet, 2006, 43(3): 203-210.
  • 7Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet, 2007, 81(4): 792-798.
  • 8Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M. CC2D2A, Encoding A coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet, 2008, 82(4): 1011-1018.
  • 9Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet, 2008, 82(5): 1158-1164.
  • 10Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Cote M, Perreault-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafreniere RG, Lacaille JC, Rouleau GA, Michaud JL. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med, 2009, 360(6): 599-605.
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