ARX基因OAR结构域中的一种新型突变。
A novel mutation in the OAR domain of the ARX gene.
作者信息
Tapie Alejandra, Pi-Denis Natalia, Souto Jorge, Vomero Alejandra, Peluffo Gabriel, Boidi María, Ciganda Martín, Curbelo Nicolás, Raggio Victor, Roche Leda, Pastro Lucía
机构信息
Facultad de Medicina Departamento de Genética Universidad de la República Oriental del Uruguay Montevideo Uruguay.
Facultad de Medicina Departamento de Pediatría Universidad de la República Oriental del Uruguay Montevideo Uruguay.
出版信息
Clin Case Rep. 2017 Jan 23;5(2):170-174. doi: 10.1002/ccr3.769. eCollection 2017 Feb.
Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutation.
对于患有智力残疾或/和癫痫的患者，应考虑ARX基因突变。它是一个具有多效性的X连锁基因。在此，我们报告一例被诊断为大田原综合征的男孩病例。我们对该基因进行了分子分析，并鉴定出一个新的错义突变。
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