Analysis of AGR1 gene variants in an infant with early-onset argininemia
10.3760/cma.j.issn.1003-9406.2019.10.011
- VernacularTitle: 一例早发型精氨酸血症患儿的AGR1基因变异分析
- Author:
Peiying YANG
1
;
Yun SUN
;
Yanyun WANG
;
Dingyuan MA
;
Wei CHENG
;
Tao JIANG
Author Information
1. Genetic Medicine Center, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University (Nanjing Maternal and Child Health Hospital), Nanjing, Jiangsu 210004, China
- Publication Type:Journal Article
- Keywords:
Argininemia;
AGR1 gene;
Gene variant
- From:
Chinese Journal of Medical Genetics
2019;36(10):996-998
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for an infant with early-onset argininemia.
Methods:Potential variant was detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases. Suspected variants were verified by Sanger sequencing.
Results:Genetic testing indicated that he has carried c. 560+ 2T>C and c. 811T>C compound heterozygous variant of the AGR1 gene, which were inherited from his father and mother, respectively. Among these, c. 560+ 2T>C was suspected to be pathogenic, while c. 811T>C was of unknown clinical significance, and both were not reported previously.
Conclusion:The c. 560+ 2T>C and c. 811T>C compound heterozygous variants of the AGR1 gene probably underlies the argininemia in this child. Above finding has enriched the variant spectrum of the AGR1 gene.
