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.
Artigo
em Chinês
| WPRIM
| ID: wpr-776759
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Arginase
/
Testes Genéticos
/
Hiperargininemia
/
Genética
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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