16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
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DOI：
10.1038/jhg.2011.42
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发表时间：
2011-07-01
影响因子：
3.5
通讯作者：
Yu, Shihui
中科院分区：
文献类型：
--
作者：
Ramalingam, Arivudainambi;Zhou, Xin-Gang;Yu, Shihui
染色体16p13.11杂合性缺失与多种神经精神疾病相关，包括智力残疾、自闭症、精神分裂症、癫痫和注意力缺陷多动障碍。但其相互复制的临床意义尚不明确。我们通过基于高分辨率微阵列的比较基因组杂交评估了1645例患有各种发育障碍的连续儿科患者，并在16p13.11区域内发现了4个缺失和8个重复，占分析患者的0.73%（12/1645）。这些患者的复发性临床特征包括精神发育迟滞/智力残疾、自闭症、癫痫发作、畸形特征或多种先天性异常。我们的数据扩大了这些基因组异常患者的临床发现范围，并为携带这些基因组异常的患者中这种重复的致病性参与提供了进一步的支持。Journal of Human Genetics（2011）56，541-544; doi：10.1038/jhg.2011.42; 2011年5月26日在线发表
The chromosome 16p13.11 heterozygous deletion is associated with a diverse array of neuropsychiatric disorders including intellectual disabilities, autism, schizophrenia, epilepsy and attention-deficit hyperactivity disorder. However the clinical significance of its reciprocal duplication is not clearly defined yet. We evaluated 1645 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and identified four deletions and eight duplications within the 16p13.11 region, representing similar to 0.73% (12/1645) of the patients analyzed. Recurrent clinical features in these patients include mental retardation/intellectual disability, autism, seizure, dysmorphic feature or multiple congenital anomalies. Our data expand the spectrum of the clinical findings in patients with these genomic abnormalities and provide further support for the pathogenic involvement of this duplication in patients who carry them. Journal of Human Genetics (2011) 56, 541-544; doi: 10.1038/jhg.2011.42; published online 26 May 2011