CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
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DOI：
10.1038/sj.mp.4002049
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发表时间：
2008-03-01
影响因子：
11
通讯作者：
Veltman, J. A.
中科院分区：
文献类型：
--
作者：
Friedman, J. I.;Vrijenhoek, T.;Veltman, J. A.
CNTNAP2基因的纯合突变与Old Order Amish社区儿童的局灶性癫痫综合征、智力迟钝、语言退化和其他神经精神问题有关。在这里，我们报道了与癫痫和精神分裂症相关的基因组重排导致CNTNAP2基因的单倍不足。在三名非相关的高加索患者中发现了影响CNTNAP2基因的不同大小的基因组缺失。相比之下，我们在512名健康对照中未观察到该基因的任何剂量变化。此外，该基因组区域尚未被确定为显示大规模拷贝数变异。因此，我们的数据证实了CNTNAP2与旧秩序阿米什人群以外的癫痫的关联，并表明该基因的剂量改变可能导致精神分裂症、癫痫和认知障碍的复杂表型。
A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2 gene were identified in three non-related Caucasian patients. In contrast, we did not observe any dosage variation for this gene in 512 healthy controls. Moreover, this genomic region has not been identified as showing large-scale copy number variation. Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment.