Gao Min, Kang Lili, Liu Yi, Gai Zhongtao
Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):422-425. doi: 10.3760/cma.j.issn.1003-9406.2018.03.026.
To explore the genetic basis for a neonate with bloody stool and thrombocytopenia.
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.
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.
The c.1221delG (G407fsX444) 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.
探讨一名患有便血和血小板减少症的新生儿的遗传基础。
收集该新生儿的临床资料。从该新生儿及其父母身上采集外周静脉血样本。通过靶向捕获进行二代测序，以检测与血小板减少症相关基因的潜在突变。通过桑格测序验证疑似突变。
这名14天大的男婴因便血8天、血小板计数降低和血小板体积减小入院。其肝功能和凝血功能均正常。基因检测发现该患者的WAS基因存在一种新的c.1221delG（G407fsX444）缺失突变，该突变遗传自他的母亲。
WAS基因的c.1221delG（G407fsX444）突变可能是先证者X连锁血小板减少症的病因。二代测序有助于此类疾病的诊断和遗传咨询。
