TP63杂合突变导致先天性手足分裂畸形
Journal of Tissue Engineering and Reconstructive Surgery（2020）
Abstract
目的 鉴定一个手足分裂畸形家系的致病基因.方法 收集患者家系临床资料,采集外周血样.采用全外显子测序技术(Whole-exome sequencing,WES)对整个外显子区域进行测序.应用染色体微阵列技术进行拷贝数变异分析.Sanger测序对突变基因进行验证.结果 拷贝数变异检测芯片显示患者拷贝数没有异常变异,WES结果显示TP63基因存在杂合突变(c.956G>A;p.R319H).Sanger测序结果与WES结果相符.结论 TP63 R319H突变与该家系患者疾病表现共分离,是导致该家系手足分裂畸形的原因.
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