摘要目的 对1例表现为便血伴血小板减少的新生儿进行二代测序及遗传学分析.方法 抽取患儿及其父母的外周静脉血样,应用二代目标区域捕获测序技术对患儿进行血小板减少症相关基因的检测,对可疑突变位点进行患儿及其母亲的Sanger测序验证.结果 患儿为男性,出生14天,因大便带血8天入院,实验室检查提示血小板持续减少、血小板体积偏小,肝功能和血凝功能未见异常.基因检测示患儿WAS基因母源性致病性缺失突变c.1221delG (G407fsX444),为新发现的突变.结论 WAS基因c.1221delG (G407fsX444)突变可能是本例患儿的致病原因,该突变引起X连锁血小板减少症,进而导致患儿便血的症状.二代测序技术有助于该类疾病的明确诊断.

abstractsObjective To explore the genetic basis for a neonate with bloody stool and thrombocytopenia.Methods Clinical data of the neonate was collected.Peripheral venous blood samples were extracted from the neonate and his parents.Next generation sequencing through target capturing was carried out to detect potential mutations of genes associated with thrombocytopenia.Suspected mutation was validated by Sanger sequencing.Results The 14-day-old male neonate was admitted to hospital for bloody stool for 8 days,decreased platelet count and reduced platelet volume.His liver function and blood coagulation were both normal.Genetic testing revealed a novel deletional mutation in c.1221delG (G407fsX444) of the WAS gene in the patient,which was inherited from his mother.Conclusion The c.1221delG (Gd07fsX444) mutation of the WAS gene probably underlies the X-linked thrombocytopenia in the proband.Next generation sequencing can facilitate the diagnose and genetic counseling of such diseases.