Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene
Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene
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DOI：
10.1002/ajmg.10221
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发表时间：
2002-03-01
期刊：
影响因子：
--
通讯作者：
Brown, S
中科院分区：
文献类型：
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作者：
Brown, LY;Hodge, SE;Brown, S
神经管缺陷（NTDs）和脑畸形是染色体13 q缺失患者的常见发现。位于13 q32关键缺失区的ZIC 2的半合子性导致人类前脑无裂畸形（HPE），并且ZIC 2的表达减少导致HPE以及小鼠的腰骶NTD。综上所述，这些观察结果使我们假设ZIC 2突变可能是孤立NTD的原因。为了验证这一点，我们筛选了192名NTD患者的ZIC 2突变。虽然我们没有在这些患者中发现ZIC 2突变，但我们确实发现了一些证据表明ZIC 2中的组氨酸序列多态性与NTD之间可能存在关联。我们的样本太小，无法得出明确的结论，但证据足够吸引人，可以鼓励进一步的研究。如果这种关联得到证实，ZIC 2活性的细微变化可能会带来NTD的风险。(C)2002 Wiley-Liss，Inc.
Neural tube defects (NTDs) and brain malformations represent a common finding in chromosome 13q deletion patients. Hemizygosity for ZIC2, which is located in the 13q32 critical deletion region, results in holoprosencephaly (HPE) in humans, and diminished expression of ZIC2 results in HPE as well as lumbosacral NTDs in mice. Taken together, these observations led us to hypothesize that ZIC2 mutations may be a cause of isolated NTD. To test this, we screened 192 NTD patients for mutations in ZIC2. While we did not find ZIC2 mutations in these patients, we did find some evidence of a possible association between a histidine tract polymorphism in ZIC2 and NTDs. Our sample was too small to reach definitive conclusions, but the evidence is sufficiently intriguing to encourage further research. If this association is confirmed, subtle alterations in ZIC2 activity may confer a risk of NTD. (C) 2002 Wiley-Liss, Inc.