Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.
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染色体微阵列在中国队列中智力障碍/发育迟缓、自闭症和多种先天性异常患者中的表现
DOI：
10.1186/1755-8166-7-34
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发表时间：
2014
影响因子：
1.3
通讯作者：
Choy KW
中科院分区：
文献类型：
--
作者：
Chong WW;Lo IF;Lam ST;Wang CC;Luk HM;Leung TY;Choy KW
背景染色体微阵列(CMA)目前是许多国家对特发性神经精神疾病患者进行的第一级基因检测。它比核型分析和其他分子测试的诊断效率更高，有助于确定神经精神疾病的根本原因。结果CMA在19.0%(20/105)的患儿中检测到7个有临床意义的微重复和17个微缺失，突变区域大小在11~10.7 Mb之间。检测到的14个致病拷贝数变异(CNV)对应于众所周知的微缺失或微重复综合征。其中四个与最近发现的基因组综合征的关键区域重叠。我们还鉴定了8p21.3-21.2处罕见的从头开始的2.3个Mb缺失是一种致病的亚显微CNV。我们还发现了两个新的CNV，一个位于Xq28，另一个位于12q21.31-q21.33，在两名临床意义不明的患者中(1.9%)。总体而言，除嵌合体、平衡易位和倒位外，CMA在准确检测亚显微染色体失衡和致病性CNV方面的检出率与以前报道的数据相当。结论本研究进一步证明了CMA具有更高的诊断率，并支持将其用作中国人DD/ID、ASD和MCA的一线诊断工具。
BackgroundChromosomal microarray (CMA) is currently the first-tier genetic test for patients with idiopathic neuropsychiatric diseases in many countries. Its improved diagnostic yield over karyotyping and other molecular testing facilitates the identification of the underlying causes of neuropsychiatric diseases. In this study, we applied oligonucleotide array comparative genomic hybridization as the molecular genetic test in a Chinese cohort of children with DD/ID, autism or MCA.ResultsCMA identified 7 clinically significant microduplications and 17 microdeletions in 19.0% (20/105) patients, with size of aberrant regions ranging from 11 kb to 10.7 Mb. Fourteen of the pathogenic copy number variant (CNV) detected corresponded to well known microdeletion or microduplication syndromes. Four overlapped with critical regions of recently identified genomic syndromes. We also identified a rare de novo 2.3 Mb deletion at 8p21.3-21.2 as a pathogenic submicroscopic CNV. We also identified two novel CNVs, one at Xq28 and the other at 12q21.31-q21.33, in two patients (1.9%) with unclear clinical significance. Overall, the detection rate of CMA is comparable to figures previously reported for accurately detect submicroscopic chromosomal imbalances and pathogenic CNVs except mosaicism, balanced translocation and inversion.ConclusionsThis study provided further evidence of an increased diagnostic yield of CMA and supported its use as a first line diagnostic tool for Chinese individuals with DD/ID, ASD, and MCA.
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影响因子：
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作者：
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通讯作者：
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Martin CL
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影响因子：
3.7
作者：
Lu, Xinyan;Shaw, Chad A.;Patel, Ankita;Li, Jiangzhen;Cooper, M. Lance;Wells, William R.;Sullivan, Cathy M.;Sahoo, Trilochan;Yatsenko, Svetlana A.;Bacino, Carlos A.;Stankiewicz, Pawel;Ou, Zhishu;Chinault, A. Craig;Beaudet, Arthur L.;Lupski, James R.;Cheung, Sau W.;Ward, Patricia A.
通讯作者：
Ward, Patricia A.