Your browser doesn't support javascript.
loading
Analysis of AGR1 gene variants in an infant with early-onset argininemia / 中华医学遗传学杂志
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.
Palavras-chave
Texto completo: 1 Base de dados: WPRIM Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Article
Texto completo: 1 Base de dados: WPRIM Idioma: Zh Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Article