Szczaluba K, Nawara M, Poirier K, Pilch J, Gajdulewicz M, Spodar K, Chelly J, Bal J, Mazurczak T
Department of Medical Genetics, National Institute of Mother and Child, Kasprzaka 17A St, 01-211 Warsaw, Poland.
Neurology. 2006 Dec 12;67(11):2073-5. doi: 10.1212/01.wnl.0000247833.29314.5b. Epub 2006 Nov 2.
We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.
我们对165名智力发育迟缓患者进行了ARX基因428 - 451碱基对（bp）重复筛查。发现来自五个家庭的18名个体携带该重复，且均有智力障碍。12例出现手部局限性肌张力障碍，6例患者有脑电图异常，包括癫痫发作。其他症状包括言语困难（4/18）、睾丸增大（4/18）、下肢痉挛或足部肌张力障碍（4/18）以及面部毛细血管扩张（3/18）。这些特征证实了该重复的多效性作用。
