Analysis of AGR1 gene variants in an infant with early-onset argininemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 996-998, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776759
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Arginase
/
Genetic Testing
/
Hyperargininemia
/
Genetics
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article