Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.
Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.
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ZIC2 和 ZIC3 基因与西班牙裔人群神经管缺陷 (NTD) 风险之间缺乏关联。
DOI：
10.1002/ajmg.a.10032
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Hendricks,Kate
中科院分区：
文献类型：
--
作者：
Zhu,Huiping;Junker,WadeM;Finnell,RichardH;Brown,Stephen;Shaw,GaryM;Lammer,EdwardJ;Canfield,Mark;Hendricks,Kate
The Zic genes are a family of transcription factors that are homologous to the Drosophila odd-paired (opa) genes. Mutations in the ZIC1, ZIC2 and ZIC3 genes have been previously described, and all result in neural malformations [Brown et al., 1998; Brown et al., 2001; 2002; Carrel et al., 2001]. Several studies indicated that mutations in the ZIC2 gene might cause holoprosencephaly (HPE) in humans [Brown et al., 1998; Brown et al., 2001]. The human ZIC2 gene is located at chromosome 13q32, which is a critical region in 13q-syndrome. Abnormalities of neural tube closure, including encephalocele and anencephaly, have been described in association with the 13q-syndrome [Brown et al., 1993, 1995]. In light of mouse studies showing that diminished expression of the Zic2 gene also resulted in lumbosacral neural tube defects (NTDs), ZIC2 may be an excellent candidate gene for human NTDs. Studies of the mouse mutant, Bent tail (Bn), suggest a relationship between another Zic gene family member, Zic3, and the risk of NTDs [Klootwijk et al., 2000]. Bnis a mouse model for X-linked NTDs, as the fetuses present with exencephaly, an analogous defect of human anencephaly. Mice with Zic3 mutations were observed in more than 10% of all Bn embryos with NTDs. Mutations in human ZIC3 gene have been described in male patients with left-right axis malformations, and some of them had lumbosacral NTDs [Gebbia et al., 1997]. Carrel et al.[2001] sequenced the three exons of the ZIC3 gene in three families with X-linked spina bifida, yet failed to find mutations or any single nucleotide polymorphisms. The evidence from mouse studies and limited clinical observations suggests that the ZIC3 gene might also be worthy of study as a candidate gene for human NTDs.Brown et al.[2002] recently described a possible association between a histidine tract polymorphism in ZIC2 and NTDs. However, their sample size was relatively small, which prevented definitive conclusions. We evaluated ZIC2 and ZIC3 genes in a group of NTD patients and controls, as well as their parents, in a Hispanic population from the Texas-Mexico border region. This population has a considerably higher prevalence of NTDs (16/10,000 live births) than is generally reported in the United States (8–10/10,000 live births). NTDs were defined as spina bifida or anencephaly. The study population has been described previously [Barber et al., 2000].
