Analysis of genetic variant in a child with Aspartylglucosaminuria.
10.3760/cma.j.cn511374-20220107-00015
- Author:
Aiming GAO
1
;
Wanling DENG
;
Ying YANG
;
Yu LIU
;
Jing WEN
Author Information
1. Department of Endocrinology and Metabolic Diseases, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, Guiyang, Guizhou 550003, China. 48282511@qq.com.
- Publication Type:Journal Article
- MeSH:
Female;
Pregnancy;
Humans;
Child;
Aspartylglucosaminuria;
DNA Copy Number Variations;
Genetic Counseling;
Genomics;
Heterozygote;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(1):87-91
- CountryChina
- Language:Chinese
-
Abstract:
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.
