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Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy

机译：家族性5q12.3微缺失：与癫痫病相关的证据

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The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions including band 5q12 have rarely been reported and have been associated with different phenotypes showing postnatal growth restriction, intellectual disability, epileptic seizures, hyperactivity, and ocular abnormalities. In this study, we describe a family in which array-CGH analysis revealed the presence of an interstitial microdeletion spanning approximately 2.9 Mb in the 5q12 region. The microdeletion is associated with epilepsy in the father and 2 siblings (a boy and a girl). So far, this is the first report in which a familial microdeletion 5q12 manifests in epilepsy. We suggest that this familial microdeletion could delineate a locus for susceptibility to epilepsy.
机译：阵列比较基因组杂交（阵列CGH）的临床使用已允许鉴定非常罕见的缺失和复制障碍，例如5q12缺失综合征（OMIM 615668），被描述为5q12染色体的连续基因缺失综合征。很少报道包括5q12带在内的染色体微缺失，并与显示出生后生长受限，智力残疾，癫痫发作，活动过度和眼部异常的不同表型相关。在这项研究中，我们描述了一个家族，其中阵列CGH分析揭示了在5q12区域中存在大约2.9 Mb的间隙微缺失。微缺失与父亲和两个兄弟姐妹（男孩和女孩）的癫痫有关。到目前为止，这是第一个有关家族性微缺失5q12出现在癫痫中的报告。我们建议，这种家族性的微缺失可以描述癫痫易感性的基因座。

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