RABL2B基因突变伴智能落后及多动症1例

朱丽娜, 刘欣, 王春枝, 王艳, 杨晓, 彭薇, 王蔚, 马宁

中国当代儿科杂志 ›› 2009, Vol. 11 ›› Issue (9) : 780-781.

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中国当代儿科杂志 ›› 2009, Vol. 11 ›› Issue (9) : 780-781.
病例报告

RABL2B基因突变伴智能落后及多动症1例

  • 朱丽娜,刘欣,王春枝,王艳,杨晓,彭薇,王蔚,马宁
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RABL2B gene mutation in a girl with mental retardation and hyperactivity

  • ZHU Li-Na, LIU Xin, WANG Chun-Zhi, WANG Yan, YANG Xiao, PENG Wei, WANG Wei, MA Ning.
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朱丽娜, 刘欣, 王春枝, 王艳, 杨晓, 彭薇, 王蔚, 马宁. RABL2B基因突变伴智能落后及多动症1例[J]. 中国当代儿科杂志. 2009, 11(9): 780-781
ZHU Li-Na, LIU Xin, WANG Chun-Zhi, WANG Yan, YANG Xiao, PENG Wei, WANG Wei, MA Ning. RABL2B gene mutation in a girl with mental retardation and hyperactivity[J]. Chinese Journal of Contemporary Pediatrics. 2009, 11(9): 780-781
中图分类号: R596   

参考文献

[1]Wong AC, Shkolny D, Dorman A, Willingham D, Roe BA, McDermid HE. Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13[J]. Genomics, 1999, 59(3): 326-334.
[2]Anderlid BM, Schoumans J, Annerén G, Tapia-paezi, Dumanski J, Blennow E, et al. FISH-mapping of a 100-kb terminal 22q13 deletion [J]. Hum Genet , 2002, 110(5): 439-443.
[3]Flint J, Wilike AO, Buckle VJ, Winter, RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation [J]. Nat Genet, 1995, 9(2): 132-140.
[4]Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, et al. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations[J]. J Med Genet, 2003, 40(9): 690-696.
[5]Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Diqilio MC, et al. High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism[J]. Clin Genet, 2004, 66(1):30-38.


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