Severe intellectual disability and autistic features associated with microduplication 2q23.1
Severe intellectual disability and autistic features associated with microduplication 2q23.1
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DOI：
10.1038/ejhg.2011.199
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发表时间：
2012-04-01
影响因子：
5.2
通讯作者：
Mendoza-Londono, Roberto
中科院分区：
文献类型：
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作者：
Chung, Brian H. Y.;Mullegama, Sureni;Mendoza-Londono, Roberto
我们报告了两个患者的发育迟缓，肌张力减退，自闭症的特点与染色体区域2q23.1-2q23.2的染色体微阵列分析检测到的重复。这些重复包括一个OMIM病态图谱基因MBD 5，以及七个已知的RefSeq基因（ACVR 2A、ORC 4L、EPC 2、KIF 5C、MIR 1978、LYPD 6 B和LYPD 6）。MBD 5位于2q23.1微缺失综合征的最小重叠区域。这份报告首次对两个重复该区域的个体进行了详细的临床检查，并表明大脑发育和认知功能可能会受到相关基因剂量增加的影响。European Journal of Human Genetics（2012）20，398-403; doi：10.1038/ejhg.2011.199; 2011年11月16日在线发表
We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved. European Journal of Human Genetics (2012) 20, 398-403; doi: 10.1038/ejhg.2011.199; published online 16 November 2011