RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability
RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability
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DOI：
10.1016/j.ejmg.2013.12.001
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发表时间：
2014-01-01
影响因子：
1.9
通讯作者：
Tassano, Elisa
中科院分区：
文献类型：
--
作者：
Baglietto, Maria Giuseppina;Caridi, Gianluca;Tassano, Elisa
拷贝数变异是包括癫痫在内的神经发育障碍的重要原因，40% 的病例是由基因决定的。癫痫是由染色体失衡或编码神经元电压或配体门控离子通道亚基或与胚胎发育过程中神经元成熟和迁移相关的蛋白质的基因突变引起的。在这里，我们报道了一名患有轻度智力障碍和特发性部分性癫痫的女孩。 Array-CGH 分析显示 9q21.13 带处有 1.040 Mb 的从头间质缺失，仅包含四个基因，即 RORB、TRPM6、NMRK1、OSTF1、两个开放阅读框 (C9orf40、C9orf41) 和一个 microRNA (MIR548H3)。 RORB 编码在视网膜、皮质和丘脑中高度表达的核受体。我们假设其在产生我们患者的表型中的作用，并将该病例与文献中先前报道的其他病例进行比较，以更好地确定基因型与表型的相关性。 (C) 2013 Elsevier Masson SAS。版权所有。
Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal maturation and migration during embryonic development. Here, we report on a girl with mild intellectual disability and idiopathic partial epilepsy. Array-CGH analysis showed a 1.040 Mb de novo interstitial deletion at 9q21.13 band encompassing only four genes, namely RORB, TRPM6, NMRK1, OSTF1, two open reading frames (C9orf40, C9orf41), and a microRNA (MIR548H3). RORB encodes a nuclear receptor highly expressed in the retina, cortex, and thalamus. We hypothesize its role in producing the phenotype of our patient and compare this case with other ones previously reported in the literature to better identify a genotype-phenotype correlation. (C) 2013 Elsevier Masson SAS. All rights reserved.