Analysis of genetic variant in a child with Aspartylglucosaminuria
扫码查看
点击上方二维码区域，可以放大扫码查看
原文链接
万方数据
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 theAGA 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 theAGA gene probably underlay the autosomal recessive AGU in this child. Above finding has enabled genetic counseling and prenatal diagnosis for his parents.
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 theAGA 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 theAGA gene probably underlay the autosomal recessive AGU in this child. Above finding has enabled genetic counseling and prenatal diagnosis for his parents.
万方数据
