CTNND2 deletion and intellectual disability
CTNND2 deletion and intellectual disability
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DOI：
10.1016/j.gene.2015.03.054
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发表时间：
2015-07-01
期刊：
影响因子：
3.5
通讯作者：
Fabretto, Antonella
中科院分区：
文献类型：
--
作者：
Belcaro, Chiara;Dipresa, Savina;Fabretto, Antonella
神经发育障碍是一组以结构或功能改变为特征的疾病。临床表现可以从孤立的智力残疾到更复杂的综合征。由于存在大的致病性CNV，分子核型分析可以解释14%-18%的病例。此外，涉及单基因的小CNV可能导致单基因疾病。在这篇文章中，我们报告了两例基因内CTNND 2缺失，分子核型分析检测，在孤立的智力残疾患者。(C)2015 Elsevier B. V.版权所有。
Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%-18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability. (C) 2015 Elsevier B.V. All rights reserved.