期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
卷 177, 期 6, 页码 557-562出版社
WILEY
DOI: 10.1002/ajmg.b.32649
关键词
array CGH; CNVs; long noncoding RNA; NRXN1
The presence of redundant copy number variants (CNVs) in groups of patients with neurological diseases suggests that these variants could have pathogenic effect. We have collected array CGH data of about 2.500 patients affected by neurocognitive disorders and we observed that CNVs in 2p16.3 locus were as frequent as those in 15q11.2, being both the most frequent unbalances in our cohort of patients. Focusing to 2p16.3 region, unbalances involving NRXN1 coding region have been already associated with neuropsychiatric disorders, although with incomplete penetrance, but little is known about CNVs located proximal to the gene. in the long noncoding RNA AK127244. We found that, in our cohort of patients with neuropsychiatric disorders. the frequency of CNVs involving AK127244 was comparable to that of NRXNI gene. Patients carrying 2p16.3 unbalances shared some common clinical characteristics regardless NRXNI and AK127244 CNVs localization. suggesting that the AK127244 long noncoding RNA could be involved in neurocognitive disease with the same effect of NRXNI unbalances. AK127244 as well as NRXNI unbalances seem to have a particular influence on language development, behavior or mood. according with the topographic correlation between NRXN1 expression and prefrontal cortex functions.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据