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
em Zh
| WPRIM
| ID: wpr-796465
Biblioteca responsável:
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.
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Base de dados:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article