高通量测序技术鉴定新生儿窒息性胸廓发育不良症1例
发布时间：2018-07-31 20:23
【摘要】：目的对1例多器官发育缺陷的新生儿进行高通量全外显子组测序(WES),明确遗传学病因。方法对患儿进行临床检查,采集患儿及其父母外周静脉血,进行全外显子组基因测序与分析,再对可疑突变位点进行Sanger测序验证。结果患儿临床表现为胸廓发育畸形伴先天性心脏病和肝脾肿大,全外显子组测序显示其存在DYNC2H1基因c.8512CT(p.R2838*)及c.10163CT(p.P3388L)复合杂合突变,分别遗传自父亲和母亲。结论根据测序结果结合临床表现,鉴定该患儿为DYNC2H1基因复合杂合突变引起的窒息性胸廓发育不良(ATD)。
[Abstract]:Objective to determine the genetic etiology of a newborn with multiple organ defect by high throughput total exon sequencing (WES),). Methods the peripheral venous blood of the children and their parents were collected and sequenced and analyzed. The suspected mutation sites were confirmed by Sanger sequencing. Results the clinical manifestations of the children were congenital heart disease and hepatosplenomegaly. Sequencing of the whole exon group showed that DYNC2H1 gene c.8512CT (p. R2838 *) and c.10163CT (p.P3388L) were heterozygous mutations, which were inherited from father and mother, respectively. Conclusion according to the results of sequencing and clinical manifestations, the children were identified as asphyxiated thoracic dysplasia (ATD).) caused by complex heterozygosity of DYNC2H1 gene.
【作者单位】： 山东大学齐鲁儿童医院儿研所;山东大学齐鲁儿童医院新生儿科;
【基金】：山东省科技计划项目资助(2013GSF11829)~~
【分类号】：R722.1
本文编号：2156732
[Abstract]:Objective to determine the genetic etiology of a newborn with multiple organ defect by high throughput total exon sequencing (WES),). Methods the peripheral venous blood of the children and their parents were collected and sequenced and analyzed. The suspected mutation sites were confirmed by Sanger sequencing. Results the clinical manifestations of the children were congenital heart disease and hepatosplenomegaly. Sequencing of the whole exon group showed that DYNC2H1 gene c.8512CT (p. R2838 *) and c.10163CT (p.P3388L) were heterozygous mutations, which were inherited from father and mother, respectively. Conclusion according to the results of sequencing and clinical manifestations, the children were identified as asphyxiated thoracic dysplasia (ATD).) caused by complex heterozygosity of DYNC2H1 gene.
【作者单位】： 山东大学齐鲁儿童医院儿研所;山东大学齐鲁儿童医院新生儿科;
【基金】：山东省科技计划项目资助(2013GSF11829)~~
【分类号】：R722.1
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