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儿童散发Rett综合征突变基因的亲源分析

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摘要 Rett综合征（Rett syndrome,RTT）是一种严重影响儿童精神运动发育的疾病,是女性严重智力低下的重要原因之一,男童罕见,女童患病率为7/10万～10/10万。1999年Amir等确定位于Xq28的甲基化CpG结合蛋白2基因（methyl—CpG-binding protein 2,MECP2）是RTT的致病基因。
作者 白欣立 李震中 王秀霞 张会丰 杨静
机构地区 河北医科大学第二医院儿科 河北医科大学第二医院神经内科
出处 《临床荟萃》 CAS 2013年第8期929-930,F0003,共3页 Clinical Focus
关键词 RETT综合征 突变 甲基化CpG结合蛋白2基因 单核苷酸多态性位点 亲源
分类号 R748 [医药卫生—神经病学与精神病学]
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参考文献9

  • 1Smeets EE. Pele K. Dan B. Rett Syndrome[J]. Mol Syndrornol , 2012.2(3-5):113-127.
  • 2Amir RE.van den Veyver IB. Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encodingrnethyl-Cpt.i?binding protein 2[J]. Nat Genet,1999,23(2):185-188.
  • 3王秀霞,张会丰,孙艳霞,李震中.儿童散发Rett综合征临床特征、基因突变与遗传咨询[J].中华实用儿科临床杂志,2013,28(8):592-595. 被引量：6
  • 4NeulJL,Kaufmann WE,Glaze DG,et al. Rett syndrome: revised diagnostic criteria and nomenclature[J]. Ann Neurol , 2010, 68 (6) : 944-950.
  • 5Thomas GH. High male: female ratio of germ-line m utations s an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders[J]. AmJ Hum Genet, 1996,58(6): 1364-1368.
  • 6Girard M, Couvert P, Carrie A, et al. Parental origin of de novo MECP2 mutations in Rett syndrome[J]. EurJ Hum Genet, 2001,9(3): 231-236.
  • 7Trappe R, La'ccone F, CobilanschiJ, et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin[J]. AmJ Hum Genet,2001,68(5): 1093-110l.
  • 8Archer H, EvansJ, Leonard H, et al. Correlation between clinical severity in patients with Rett syndrome with a p. R168X or p. T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation[J].J Med Genet, 2007 ? 44(2): 148-152.
  • 9张晶晶,包新华,曹广娜,姜胜玲,朱兴旺,卢红梅,贾利芳,潘虹,吴希如.中国Rett综合征患儿突变基因的亲源分析[J].中华医学遗传学杂志,2010,27(2):121-124. 被引量：5

二级参考文献32

  • 1包新华,赵东红,吴希如.Rett综合征的X染色体失活类型及其线粒体DNA的初步研究[J].中华儿科杂志,1995,33(4):229-231. 被引量：3
  • 2Rett A. On unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr, 1966, 116:723-726.
  • 3Hagberg B. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand, 1985, 74:405-408.
  • 4Amir RE, van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG- binding protein 2. Nat Genet, 1999, 23:185-188.
  • 5Weaving I.S, Ellaway CJ, Gecz J, et al. Rett syndrome:clinical review and genetic update. J Med Genet, 2005, 42:1-7.
  • 6Li MR, Pan H, Bao XH, et al. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J Hum Genet, 2007, 52:38-47.
  • 7Thomas GH. High male : female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X linked dominant disorders. Am J Hum Genet, 1996, 58:1364-1368.
  • 8Hagberg B, Aicardi J, Dias K, et al. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol, 1983, 14:471-479.
  • 9Schanen NC. Molecular approaches to the Rett syndrome gene. J Child Neurol, 1999, 14: 806-814.
  • 10Fyfe S, Leonard H, Dye D, et al. Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome. J Child Neurol, 1999, 14:440-445.

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临床荟萃
2013年 第8期

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