SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay
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DOI：
10.1002/ajmg.b.32187
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发表时间：
2013-12
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通讯作者：
Y. An;S. Amr;A. Torres;L. Weissman;Peter C. Raffalli;G. Cox;X. Sheng;V. Lip;W. Bi;Ankita Patel;P. Stankiewicz;Bai-Lin Wu;Yiping Shen
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作者：
Y. An;S. Amr;A. Torres;L. Weissman;Peter C. Raffalli;G. Cox;X. Sheng;V. Lip;W. Bi;Ankita Patel;P. Stankiewicz;Bai-Lin Wu;Yiping Shen
20 p13端粒/亚端粒缺失具有临床意义，但目前正在研究中。到目前为止，只有5个分子描绘的情况下，已在文献中报道，并没有候选基因有足够的牵连。在这里，我们提出了六个新的缺失的情况下，染色体微阵列分析（CMA）确定。我们还回顾了32例结合文献和数据库。我们发现，大多数20 p13缺失患者表现出显着的发育迟缓。畸形特征是常见的，但没有一致的模式被识别。认知能力下降是经常发生的。基于本研究中描绘的致病性缺失，我们绘制了最小的重叠区域，并确定了两个神经系统表达基因（SOX 12和NRSN 2）作为候选基因，可能参与20 p13微缺失的发育缺陷。© 2013 Wiley Periodicals，Inc.
20p13 telomeric/subtelomeric deletions are clinically significant but are currently under‐investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes have been sufficiently implicated. Here, we present six new deletion cases identified by chromosomal microarray analysis (CMA). We also review 32 cases combined from literature and databases. We found that most 20p13 deletion patients exhibit significant developmental delay. Dysmorphic features are common but a consistent pattern was not recognized. Reduced cognitive ability was frequent. Based on pathogenic deletions delineated in this study, we mapped the smallest overlapping region and identified two nervous system expressing genes (SOX12 and NRSN2) as candidate genes that may be involved in the developmental defects in 20p13 microdeletion. © 2013 Wiley Periodicals, Inc.