Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.
Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):832-40. doi: 10.1002/ajmg.b.32187. Epub 2013 Sep 6.
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.
20p13 端粒/亚端粒缺失具有临床意义，但目前研究不足。到目前为止，文献中仅报道了五例分子定义的病例，而且没有充分涉及候选基因。在这里，我们通过染色体微阵列分析 (CMA) 鉴定了六个新的缺失病例。我们还回顾了文献和数据库中的 32 例病例。我们发现大多数 20p13 缺失患者表现出明显的发育迟缓。发育异常很常见，但没有识别出一致的模式。认知能力下降很常见。基于本研究中定义的致病性缺失，我们绘制了最小重叠区域，并确定了两个神经系统表达基因 (SOX12 和 NRSN2) 作为候选基因，它们可能参与 20p13 微缺失的发育缺陷。
