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.8512C＞T(p.R2838*)及c.10163C＞T(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).

abstractsObjective To investigate the genetic cause of a neonatal with multi-organs defects by using high throughput whole exome sequencing (WES).Methods The patient was clinical examined and the peripheral venous blood were collected from the patient and her parents.Whole exome sequencing was performed to analyze her genetic cause.The likely pathogenic mutations were validated by Sanger sequencing.Results Clinical manifestation of the patient displayed that she had thoracic malformation,congenital heart disease and hepatosplenomegaly.WES result showed that the patient carried the compound heterozygous mutations of c.8512C＞T (p.R2838*) and c.10163C＞T (p.P3388L) inDYNC2H1 gene which were inherited from her father and mother,individually.Conclusion Based on the WES results and clinical features,the neonate suffered from asphyxiating thoracic dystrophy (ATD) caused by DYNC2H1 mutation.