Duplication of 10q22.3-q23.3 Encompassing BMPR1A and NGR3 Associated with Congenital Heart Disease, Microcephaly, and Mild Intellectual Disability
Duplication of 10q22.3-q23.3 Encompassing BMPR1A and NGR3 Associated with Congenital Heart Disease, Microcephaly, and Mild Intellectual Disability
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10q22.3-q23.3 的重复包含与先天性心脏病、小头畸形和轻度智力障碍相关的 BMPR1A 和 NGR3。
DOI：
10.1002/ajmg.a.37347
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发表时间：
2015-12-01
影响因子：
2
通讯作者：
Tan, Zhi-Ping
中科院分区：
文献类型：
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作者：
Tang, Mi;Yang, Yi-Feng;Tan, Zhi-Ping
染色体区域10q22.3-q23.3包含几个低拷贝重复序列（LCR），并且易于重组。在LCR 3和LCR 4内具有断点的缺失已被描述为与智力残疾和畸形特征相关，而相互重复很少报道。我们提出了一个额外的情况下，多种先天性异常，包括小头畸形，心脏缺陷，和轻度智力残疾，其中从头间质8.2-Mb重复10q22.3-q23.3，包括BMPR 1A和NGR 3，被确定的Illumina SNP阵列平台。我们的研究是一致的假设，即BMPR 1A是一个合理的候选基因的先天性心脏病（CHD），并应有助于这些基因组疾病的诊断和治疗。(C)2015 Wiley Periodicals，Inc.
Chromosome region 10q22.3-q23.3 contains several low copy repeats (LCRs) and is prone to recombination. Deletions with breakpoints within LCR3 and LCR4 have been described to be associated with intellectual disability and dysmorphic features, while the reciprocal duplications are rarely reported. We present an additional case with multiple congenital anomalies that include microcephaly, cardiac defect, and mild intellectual disability, in which a de novo interstitial 8.2-Mb duplication of 10q22.3-q23.3, including BMPR1A and NGR3, was identified by Illumina SNP array platform. Our study is consistent with the hypothesis that the BMPR1A is a plausible candidate gene for congenital heart disease (CHD) and should contribute to the diagnosis and treatment of these genomic diseases. (C) 2015 Wiley Periodicals, Inc.