与自闭症相关，但与 Lowe 综合征无关的 OCRL 和相邻基因的复制。
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
机构信息
Greenwood Genetic Center, South Carolina 29646, USA.
出版信息
Am J Med Genet A. 2012 Oct;158A(10):2602-5. doi: 10.1002/ajmg.a.35566. Epub 2012 Sep 10.
Abstract
Disturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual disability, and recognizable malformation syndromes. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking genes. Activity of the enzyme gene product in fibroblasts was elevated to over twice the level in control fibroblasts. The boy had no somatic or neurological findings reminiscent of Lowe syndrome.
摘要
在整个基因组中发现了形式为微重复和微缺失的紊乱，这些紊乱与自闭症、智力障碍和可识别的畸形综合征有关。在我们对 187 名自闭症先证者的研究中，我们在 Xq25 中发现了一个重复，包括 OCRL 及其六个侧翼基因的完全基因重复。成纤维细胞中酶基因产物的活性升高到对照成纤维细胞的两倍以上。这个男孩没有任何躯体或神经表现类似于 Lowe 综合征。
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