Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor
Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor
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DOI：
10.1016/j.jpedsurg.2007.02.023
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发表时间：
2007-07-01
影响因子：
2.4
通讯作者：
Arul, G. S.
中科院分区：
文献类型：
--
作者：
Narayanan, M.;Murphy, M. S.;Arul, G. S.
我们报告一例巨囊肿-小结肠-肠低血糖综合征（MMIHS），发生在与瞳孔散大，在一个女婴出生的近亲亚洲父母。这种关联以前没有报道过，并且是令人感兴趣的，因为已经在通过敲除编码神经元烟碱乙酰胆碱受体的α 3亚基或β 2和β 4亚基的基因产生的鼠MMIHS模型中发现了瞳孔散大。这可能为人类MMIHS的遗传基础提供了重要线索。(c)2007年爱思唯尔公司All rights reserved.
We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), occurring in association with mydriasis, in a female infant born to consanguineous Asian parents. This association has not previously been reported and is of interest because mydriasis has been found in a murine MMIHS model produced by knockout of the genes coding for the alpha 3 subunit or the beta 2 and beta 4 subunits of the neuronal nicotinic acetylcholine receptor. This may provide an important clue to the genetic basis of MMIHS in humans. (c) 2007 Elsevier Inc. All rights reserved.