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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Arginasa
/
Pruebas Genéticas
/
Hiperargininemia
/
Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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