ASPM突变致小头畸形1例报告及文献回顾  

A case report and literature review of microcephaly caused by ASPM mutation

作　　者：缪勤飞 马红霞 陈志红[1] 翟琼香[1] 梁明娟 黎雪萍 MIAO Qinfei;MA Hongxia;CHEN Zhihong;ZHAI Qiongxiang;LIANG Mingjuan;LI Xueping(Department of Pediatrics,Guangdong General Hospital,Guangdong Academy of Medical Sciences,Guangdong Academy of Neuroscience,Guangzhou 510080,Guangdong,China;Shantou University,Shantou 515041,Guangdong,China;Southern Medical University,Guangzhou 510515,Guangdong,China)

机构地区：[1]广东省人民医院儿科,广东省医学科学院,广东省神经科学院,广东广州510080 [2]汕头大学,广东汕头515041 [3]南方医科大学,广东广州510515

出　　处：《临床儿科杂志》2020年第5期359-362,共4页Journal of Clinical Pediatrics

基　　金：广东省科技计划项目(No.2017A020215052);2017年国家自然科学基金(No.8170128);国家“重大慢性非传染性疾病防控研究”重点专项“儿童脑发育障碍的早期识别和综合干预”项目子课题(No.2016YFC1306201)。

摘　　要：目的探讨ASPM基因检查对小头畸形的诊治价值。方法回顾分析1例小头畸形患儿的临床资料以及采用二代测序方法进行小头畸形相关基因全外显子捕获检测结果,同时复习相关文献。结果患儿,女,18月龄,头围37.5 cm(<−3 SD),无明显智力发育异常。基因检测结果显示,患儿ASPM基因存在第18号外显子的c.8815 delA和第3号外显子的c.C1789T变异,生物信息学软件预测为致病性变异。结论ASPM基因18号外显子c.8815delA和第3号外显子c.C1789T变异极可能是导致原发性小头畸形的原因之一,基因检测有助于早期诊断。Objective To report a case of microcephaly with a novel mutation in ASPM gene,and to explore the value of gene examination in the diagnosis and treatment of the disease.Methods Clinical data of a one year and 6 months old girl with microcephaly was retrospectively analyzed,and whole exome of microcephaly-related genes were detected by second generation sequencing.The literature of microcephaly was reviewed.Results There were two novel mutations in exons 18(c.8815delA)and exon 3(c.C1789T)in ASPM gene.Bioinformatics software(Mutation Taster)predicted these two variants were pathogenic.Conclusion The c.8815delA mutation in exon18 of ASPM gene and the c.C1789T mutation in exon 3 may be one of the causes of primary microcephaly in children.Early gene examination is helpful for early diagnosis of the disease.

关 键 词：小头畸形 ASPM基因 遗传 

分 类 号：R725.9[医药卫生—儿科]