天冬氨酰基葡萄糖胺尿症患儿1例的基因变异分析  

Analysis of genetic variant in a child with Aspartylglucosaminuria

作　　者：高爱民 邓婉玲 杨莹 刘毓 文静 Gao Aiming;Deng Wanling;Yang Ying;Liu Yu;Wen Jing(Department of Endocrinology and Metabolic Diseases,Guiyang Maternal and Child Health Care Hospital,Guiyang Children′s Hospital,Guiyang,Guizhou 550003,China)

机构地区：[1]贵阳市妇幼保健院贵阳市儿童医院内分泌遗传代谢科,贵阳550003

出　　处：《中华医学遗传学杂志》2023年第1期87-91,共5页Chinese Journal of Medical Genetics

基　　金：贵阳市卫生局科学技术计划((2014)筑卫科技合同字第17号)。

摘　　要：目的分析1例天冬氨酰基葡萄糖胺尿症(AGU)患儿的临床表型及遗传学病因。方法选取2021年1月25日于贵阳市妇幼保健院儿童内分泌科就诊的1例AGU患儿为研究对象。收集患儿的临床资料,对患儿进行全外显子组测序(WES)和基因组拷贝数变异测序(CNV-seq),用Sanger测序对候选变异进行家系验证。结果患儿携带AGA基因c.319C>T(p.Arg107*)纯合无义变异,其父母均为同一变异的杂合子。患儿CNV-seq分析未见异常。上述变异在人群数据库及HGMD数据库中均未见收录,根据美国医学遗传学与基因组学学会相关指南判断为致病性(PVS1+PM2+PP3)。结论AGA基因c.319C>T纯合变异可能是本例AGU患儿的遗传学病因,上述发现为患儿父母的再次生育和产前诊断提供了依据。Objective To explore the genetic basis for a child with Aspartylglucosaminuria(AGU).Methods Clinical data of the patient was analyzed.The child was subjected to trio-whole exome sequencing(WES)and copy number variation sequencing(CNV-seq),and candidate variant was verified by Sanger sequencing.Results The child was found to harbor homozygous c.319C>T(p.Arg107*)nonsense variant of the AGA gene,for which both of his parents were heterozygous carriers.No abnormality was found by CNV-seq analysis.The c.319C>T(p.Arg107*)variant was not found in population database,HGMD and other databases.Based on guidelines of the American College of Medical Genetics and Genomics,the variant was predicted to be pathogenic(PVS1+PM2+PP3).Conclusion The c.319C>T variant of the AGA gene probably underlay the autosomal recessive AGU in this child.Above finding has enabled genetic counseling and prenatal diagnosis for his parents.

关 键 词：天冬氨酰基葡萄糖胺尿症 AGA基因 致病变异 全外显子组测序 

分 类 号：R725.8[医药卫生—儿科]