Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
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DOI：
10.1038/2484
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发表时间：
1998-10-01
期刊：
影响因子：
30.8
通讯作者：
Muenke, M
中科院分区：
文献类型：
--
作者：
Brown, SA;Warburton, D;Muenke, M
全前脑畸形(HPE)是人脑最常见的结构异常，也是13号染色体缺失和重复患者常见的异常之一。在对一系列13号染色体长臂半合缺失患者进行分子分析的基础上，我们在13q32带上定义了一个离散区域，在该区域缺失会导致主要的发育异常(13q32缺失综合征)。该大约1Mb的区域(1)位于标记D13S136和D13S147之间。该区域缺失的患者通常有严重的先天性畸形，包括脑异常如HPE或脑外畸形，以及数字异常如拇指缺失(2)。我们现在报告人类ZIC2映射到这个关键的缺失区，并且ZIC2的杂合突变与HPE相关。ZIC2基因的单倍性不足很可能导致13q缺失患者出现的脑畸形。
Holoprosencephaly (HPE) is the most common structural anomaly of the human brain and is one of the anomalies seen in patients with deletions and duplications of chromosome 13. On the basis of molecular analysis of a series of patients with hemizygous deletions of the long arm of chromosome 13. we have defined a discrete region in band 13q32 where deletion leads to major developmental anomalies (the 13q32 deletion syndrome). This approximately 1-Mb region(1) lies between markers D13S136 and D13S147. Patients in which this region is deleted usually have major congenital malformations, including brain anomalies such as HPE or exencephaly, and digital anomalies such as absent thumbs(2). We now report that human ZIC2 maps to this critical deletion region and that heterozygous mutations in ZIC2 are associated with HPE. Haploinsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients.