Baglietto Maria Giuseppina, Caridi Gianluca, Gimelli Giorgio, Mancardi Margherita, Prato Giulia, Ronchetto Patrizia, Cuoco Cristina, Tassano Elisa
Centro Epilessie, UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
Laboratorio di Fisiopatologia dell'Uremia, Istituto Giannina Gaslini, Genova, Italy.
Eur J Med Genet. 2014 Jan;57(1):44-6. doi: 10.1016/j.ejmg.2013.12.001. Epub 2013 Dec 17.
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.
拷贝数变异是包括癫痫在内的神经发育障碍的一个重要原因，40%的癫痫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门控或配体门控离子通道亚基的基因突变，或与胚胎发育过程中神经元成熟和迁移相关的蛋白质突变引起的。在此，我们报告一名患有轻度智力障碍和特发性局灶性癫痫的女孩。阵列比较基因组杂交分析显示9q21.13带存在一个1.040 Mb的新生间质性缺失，仅包含四个基因，即RORB、TRPM6、NMRK1、OSTF1，两个开放阅读框（C9orf40、C9orf41），以及一个微RNA（MIR548H3）。RORB编码一种在视网膜、皮层和丘脑高度表达的核受体。我们推测其在产生我们患者表型中的作用，并将此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-表型相关性。
