一名患有der(4)t(4;8)(p16.3;p23.3)且未累及LETM1基因的患者的Dravet表型。
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.
作者信息
Bayindir Baran, Piazza Elena, Della Mina Erika, Limongelli Ivan, Brustia Francesca, Ciccone Roberto, Veggiotti Pierangelo, Zuffardi Orsetta, Dehghani Mohammed Reza
机构信息
Dept. Molecular Medicine, University of Pavia, Pavia, Italy.
出版信息
Eur J Med Genet. 2013 Oct;56(10):551-5. doi: 10.1016/j.ejmg.2013.08.003. Epub 2013 Aug 31.
We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both conventional and next generation sequencing resulted negative, therefore she was investigated by a-GCH that showed the presence of an unbalanced translocation resulting in a der(4)t(4;8)(p16.3,p23.3). This was an unconventional translocation, different from the recurrent translocation affiliated with WHS and did not involve LETM1.
我们报告了一名患有德雷维特综合征的患者。通过传统测序和新一代测序对可能参与该表型发病机制的基因进行全面分析，结果均为阴性，因此对她进行了α-谷氨酸环化酶（a-GCH）检测，结果显示存在导致der(4)t(4;8)(p16.3,p23.3)的不平衡易位。这是一种非常规易位，不同于与WHS相关的复发性易位，且不涉及LETM1。
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