Analysis of AGR1 gene variants in an infant with early-onset argininemia.

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. jiangzhang784@163.com.
Publication Type:Journal Article
MeSH: Arginase; genetics; Female; Genetic Testing; Humans; Hyperargininemia; genetics; Infant; Male
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.