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MECP2重复综合征的研究进展 被引量：4

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摘要 1999年,Lubs等[1]描述了一个X连锁的智力障碍家系,5个受累男性表现为智力障碍、吞咽困难、胃食管反流、反复呼吸道感染、肌张力低下和面容特殊：眼裂下斜、眼距宽、低鼻梁和短鼻.2个年龄稍大的患儿CT显示大脑萎缩.3例女性携带者智商小于80.
作者 易致 潘虹
机构地区 北京大学第一医院实验中心
出处 《中华儿科杂志》 CAS CSCD 北大核心 2015年第10期792-795,共4页 Chinese Journal of Pediatrics
关键词 MECP2 综合征 反复呼吸道感染 智力障碍 胃食管反流 肌张力低下 吞咽困难 大脑萎缩
分类号 R725.9 [医药卫生—儿科]
  • 相关文献

参考文献47

  • 1Lubs H, Abidi F, Bier JA, et al. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28 [ J ]. Am J Med Genet, 1999, 85(3) : 243-248.
  • 2Meins M, Lehmann J, Gerresheim F, et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome [J]. J Med Genet, 2005, 42(2) : el2.
  • 3Van Esch H, Bauters M, Ignatius J, et aL Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males [ J ], Am J Hum Genet, 2005, 77(3) : 442-453.
  • 4Friez M J, Jones JR, Clarkson K, et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28 [J]. Pediatrics, 2006, 118 (6) : e1687-1695.
  • 5Tang SS, Fernandez D, Lazarou LP, et al. MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys [J]. Eur J Paediatr Neurol, 2012, 16(2) : 209 -212.
  • 6Ramoeki MB, Tavyev YJ, Peters SU. The MECP2 duplication syndrome[J]. Am J Med Genet A, 2010, 152A (5): 1079-1088.
  • 7Fukushi D, Yamada K, Nomura N, et al. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2 [ J ]. Am J Med Genet A, 2014, 164A(4) : 924-933.
  • 8Lewis JD, Meehan RR, Henzel WJ, et al. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated BNA [J] . Cell, 1992, 69 (6): 905-914.
  • 9Amir 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 [J]. Nat Genet, 1999, 23(2): 185-188.
  • 10易致,王松涛,李琳,吴海荣,马祎楠,戚豫,潘虹.分子遗传学技术诊断MECP2重复综合征四例分析[J].中华儿科杂志,2014,52(12):937-941. 被引量：7

二级参考文献18

  • 1李美蓉,潘虹,包新华,张玉稚,姜胜玲,吴希如.26例不典型Rett综合征MECP2基因的突变分析[J].中华儿科杂志,2006,44(4):285-288. 被引量：6
  • 2Lui^ H, Abidi F, Bier JA,et al. XLMR syndrome characterizedby multiple respiratory infections, hypertelorism,vere CNSdeterioration and early death localizes to distal Xq2S [J]. Am JMed Genet, 1999 , 85 : 243-248.
  • 3Sanmann JN, Bishay DL, Stair U, et al Characterization of sixnovel patients with MECP2 duplications due to unbalancedrearrangements of the X chromosome [J]. Am J Med Genet A,2012,158A: 1285-1291.
  • 4Shimada S, Okoto N, Ito M, et aL MECP2 duplicationsyndrome in both genders[J]. Brain Dev, 2013,35: 411-419.
  • 5Gonzales ML, LaSalle JM. Hie role of MeCP2 in braindevelopment and neurodevelopraental dividers [J] . CurrPsychiatiy Rep, 2010, 12: 127-134.
  • 6Meins M,Lehmann J,Gerresheim F,et al.Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome[J].J Med Genet,2005,42:e12.
  • 7Van Esch H,Bauters M,Ignatius J,et al.Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males[J].Am J Hum Genet,2005,77:442-453.
  • 8Friez MJ,Jones JR,Clarkson K,et al.Recurrent infections,hypotonia,and mental retardation caused by duplication of MECP2 and adjacent region in Xq28[J].Pediatrics,2006,118:e1687-e1695.
  • 9Xu X,Xu Q,Zhang Y,et al.A case report of Chinese brothers with inherited MECP2-containing duplication:autism and intellectual disability,but not seizures or respiratory infections[J].BMC Med Genet,2012,13:75.
  • 10Allen RC,Zoghbi HY,Moseley AB,et al.Methylation of HpaⅡ and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation[J].Am J Hum Genet,1992,51:1229-1239.

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中华儿科杂志
2015年 第10期

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